1 Q PAX Ophthalmicana ?

?

?

With respect to genetics, to what does the term Central Dogma refer? 2 A PAX Ophthalmicana DNA

RNA

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein 3 Q PAX Ophthalmicana DNA

?

RNA

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code 4 A PAX Ophthalmicana DNA

Transcription

RNA

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code 5 Q PAX Ophthalmicana DNA

Transcription

RNA

?

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 6 A PAX Ophthalmicana DNA

Transcription

RNA

Translation

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 7 Q PAX Ophthalmicana DNA

In this context, what is a transcription factor? Transcription

RNA

Translation

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 8 A PAX Ophthalmicana DNA

In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene

RNA

Translation

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 9 Q PAX Ophthalmicana DNA

In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene

RNA Do transcriptions factors play an important role in the genetic process? Translation

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 10 A PAX Ophthalmicana DNA

In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene

RNA Do transcriptions factors play an important role in the genetic process? Translation Indeed they do. In fact, about 10% of all genes in humans code for transcription factors!

Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 11 Q PAX Ophthalmicana DNA

In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene

RNA Does transcriptionDo- factortranscriptions dysfunction factors play play a role an inimportant role ophthalmic dz? in the genetic process? TranslationIndeed it does—Indeeda number they of do. important In fact, aboutophthalmic 10% of all conditions can begenes traced in humansto transcription code for-factor transcription mutations factors! Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 12 A PAX Ophthalmicana DNA

In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene

RNA Does transcriptionDo- factortranscriptions dysfunction factors play play a role an inimportant role ophthalmic dz? in the genetic process? TranslationIndeed it does—Indeeda number they of do. important In fact, aboutophthalmic 10% of all conditions can begenes traced in humansto transcription code for-factor transcription mutations factors! Protein

With respect to genetics, to what does the term Central Dogma refer? It refers to the two steps involved in transforming genetic information into protein: --The first step is the transcription of DNA code into RNA code; followed by --the translation of the RNA code into a protein 13 Q PAX Ophthalmicana DNA

In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene

RNA Does transcriptionDo- factortranscriptions dysfunction factors play play a role an inimportant role ophthalmic dz? in the genetic process? TranslationIndeed it does—Indeeda number they of do. important In fact, aboutophthalmic 10% of all conditions can begenes traced in humansto transcription code for-factor transcription mutations factors! Protein

The Fundamentals book lists three transcription-factor (genes) With respect thatto genetics, are especially to what important does forthe the term eye Central—what are Dogma they? refer? It refers to the-- two steps involved in transforming genetic information into protein: --The first ste--p is the transcription of DNA code into RNA code; fo llowed by --the translation-- of the RNA code into a protein 14 A PAX Ophthalmicana DNA

In this context, what is a transcription factor? Transcription A protein that regulates the transcription process for a specific gene

RNA Does transcriptionDo- factortranscriptions dysfunction factors play play a role an inimportant role ophthalmic dz? in the genetic process? TranslationIndeed it does—Indeeda number they of do. important In fact, aboutophthalmic 10% of all conditions can begenes traced in humansto transcription code for-factor transcription mutations factors! Protein

The Fundamentals book lists three transcription-factor (genes) With respect thatto genetics, are especially to what important does forthe the term eye Central—what are Dogma they? refer? It refers to the-- PAX2two steps involved in transforming genetic information into protein: --The first ste--pPAX3 is the transcription of DNA code into RNA code; fo llowed by --the translation--PAX6of the RNA code into a protein 15 Q PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from?

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6 16 A PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

The Fundamentals book refers to PAX genes both as ‘paired homeobox’ and ‘paired box’ genes

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6 17 Q PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

Generally speaking, what are PAX genes involved in?

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6 18 A PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

Generally speaking, what are PAX genes involved in? Morphogenesis

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6 19 Q PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

Generally speaking, what are PAX genes involved in? Morphogenesis

Of these three PAX genes, which is most important to the development of the eye?

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2? --PAX3? --PAX6? 20 A PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

Generally speaking, what are PAX genes involved in? Morphogenesis

Of these three PAX genes, which is most important to the development of the eye? PAX6. The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.”

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6! 21 PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

Generally speaking, what are PAX genes involved in? Morphogenesis

Of these three PAX genes, which is most important to the development of the eye? PAX6. The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.”

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 --PAX6! Next let’s take a closer look at PAX6 22 Q PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

The mnemonic is… 23 A PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P A X 6

The mnemonic is…PAX6 24 Q PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P Start with the ‘P’ and work down A X 6 25 Q/A PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P eters anomaly A X 6 26 Q/A PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P eters anomaly Anirida X 6 27 Q/A PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P eters anomaly Anirida Congenital cataraX 6 28 A PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P eters anomaly Anirida Congenital cataraX foveal 6hypoplasia

If you use your imagination, the 6 looks like a lower-case h… 29 Q PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P eters anomaly Anirida Congenital cataraX foveal 6hypoplasia

Endeavor to remember all of these. But if you have to pick just one to remember, make it… 30 A PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P eters anomaly Anirida Congenital cataraX foveal 6hypoplasia

Endeavor to remember all of these. But if you have to pick just one to remember, make it…aniridia. 31 PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P eters anomaly Anirida Congenital cataraX foveal 6hypoplasia

Endeavor to remember all of these. But if you have to pick just one to remember, make it…aniridia. Almost all cases of aniridia are 2ndry to mutations involving PAX6. 32 PAX Ophthalmicana

There are four ocular abnormalities attributed to the PAX6 gene. What are they?

P eters anomaly Anirida Congenital cataraX One final takeaway point regarding aniridia… foveal 6hypoplasia

Endeavor to remember all of these. But if you have to pick just one to remember, make it…aniridia. Almost all cases of aniridia are 2ndry to mutations involving PAX6. PAX Ophthalmicana

 Nystgamus is commonly associated True  Aniridia is associated with limbal stem cell deficiency True  Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral TheBecause Thetakeaway term all are point:‘aniridia’ tied Don’t to PAX6is thinka misnomer, because, in about ½ of cases, a ofyou aniridia know as foveal an iris hypoplasia, condition! TheON rudimentaryBCSC hypoplasiacharacterizes and iris cataracts root it isis apresent False; it’s a misnomer because a panophthalmicarerudimentary associated withdisorder iris aniridia. root is always present  Aniridia is strongly associated with foveal and optic nerve hypoplasia True

One Patientsfinal takeaway complain point of (and infants suffer from) photophobia True  Familialregarding cases aniridia… are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex  Aniridia is associated with glaucoma True 33  Aniridia is associated with early-onset cataracts True Q PAX Ophthalmicana  Nystgamus? is commonly associated True  Aniridia is associated with limbal stem cell? deficiency True  Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral The takeaway point: Don’t think …ButThe you term need ‘aniridia’ to know is the a misnomer(Hints because, forthcoming) in about ½ of cases, a of aniridia as an iris condition! three other eye findings also The rudimentaryBCSC characterizes iris root it isis apresent False; it’s a misnomer because a associated with aniridia: panophthalmicrudimentarydisorder iris root is always present  Aniridia is strongly associated with foveal and optic nerve hypoplasia True

One Patientsfinal takeaway complain point of (and infants suffer from) photophobia True  Familialregarding cases aniridia… are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex  Aniridia is associated with glaucoma? True 34  Aniridia is associated with early-onset cataracts True Q PAX Ophthalmicana

An eyeNystgamus movement issueis commonly associated True  Aniridia is associated with limbal stemA corneal cell issue deficiency True  Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral The takeaway point: Don’t think …ButThe you term need ‘aniridia’ to know is the a misnomer(Hints because, forthcoming) in about ½ of cases, a of aniridia as an iris condition! three other eye findings also The rudimentaryBCSC characterizes iris root it isis apresent False; it’s a misnomer because a associated with aniridia: panophthalmicrudimentarydisorder iris root is always present  Aniridia is strongly associated with foveal and optic nerve hypoplasia True

One Patientsfinal takeaway complain point of (and infants suffer from) photophobia True  Familialregarding cases aniridia… are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex  Aniridia is associated with glaucomaAngle-related True condition 35  Aniridia is associated with early-onset cataracts True A PAX Ophthalmicana

 Nystgamus is commonly associated True  Aniridia is associated with limbal stem cell deficiency True  Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral The takeaway point: Don’t think …ButThe you term need ‘aniridia’ to know is the a misnomer because, in about ½ of cases, a of aniridia as an iris condition! three other eye findings also The rudimentaryBCSC characterizes iris root it isis apresent False; it’s a misnomer because a associated with aniridia: panophthalmicrudimentarydisorder iris root is always present  Aniridia is strongly associated with foveal and optic nerve hypoplasia True

One Patientsfinal takeaway complain point of (and infants suffer from) photophobia True  Familialregarding cases aniridia… are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex  Aniridia is associated with glaucoma True 36  Aniridia is associated with early-onset cataracts True PAX Ophthalmicana

 Nystgamus is commonly associated True  Aniridia is associated with limbal stem cell deficiency True  Presents unilaterally and bilaterally in roughly equal rates False; it is almost always bilateral The Thetakeaway term point‘aniridia’: Don’t is thinka misnomer because, in about ½ of cases, a of aniridia as an iris condition! The rudimentaryBCSC characterizes iris root it isis apresent False; it’s a misnomer because a panophthalmicrudimentarydisorder iris root is always present  Aniridia is strongly associated with foveal and optic nerve hypoplasia True

One Patientsfinal takeaway complain point of (and infants suffer from) photophobia True  Familialregarding cases aniridia… are at risk for Wilms tumor False; 1/3 of sporadic cases develop Wilms tumor as part of the WAGR complex  Aniridia is associated with glaucoma True 37  Aniridia is associated with early-onset cataracts True 38 PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

Generally speaking, what are PAX genes involved in? Morphogenesis

Of these three PAX genes, which is most important to the development of the eye? PAX6. The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.”

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? --PAX2 --PAX3 Next, we’ll do PAX3 --PAX6 Q PAX Ophthalmicana

With what eponymous syndrome is PAX3 associated?

39 A PAX Ophthalmicana

With what eponymous syndrome is PAX3 associated? Waardenburg Syndrome

40 Q PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum

What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

41 A PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys --Dystopia canthorum

What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

42 Congenital lid abnormalities: Matching

Waardenburg syndrome: Heterochromia iridis, dystopia canthorum, and mild synophrys (What the heck is synophrys?)

43 Q PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys What the heck is synophrys? --Dystopia canthorumThe formal medical term for a unibrow

What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

44 Q/A PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys What the heck is synophrys? --Dystopia canthorumThe formal medical term for a unibrow

What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

45 A PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys What the heck is synophrys? --Dystopia canthorumThe formal medical term for a unibrow

What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

46 Congenital lid abnormalities: Matching

Waardenburg syndrome: Synophrys 47 Congenital lid abnormalities: Matching

Waardenburg syndrome: Heterochromia iridis, dystopia canthorum, and mild synophrys (What the heck is dystopia canthorum?)

48 Q PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys What the heck is dystopia canthorum? --Dystopia canthorum Lateral displacement of the canthi (ie, telecanthus) PLUS laterally displaced lacrimal puncta What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

49 A PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys What the heck is dystopia canthorum? --Dystopia canthorum Lateral displacement of the canthi (ie, telecanthus) PLUS laterally displaced lacrimal puncta What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

50 Q PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys What the heck is dystopia canthorum? --Dystopia canthorum Lateral displacement of the canthi (ie, telecanthus) PLUS laterally displaced lacrimal puncta What non-ophthalmic finding is classic for Waardenburg syndrome? How onThe earth presence are you supposedof a white to forelock recognize (ie that, an the isolated puncta arestreak too lateral?of white hair Draw inan theimaginary forehead vertical region) line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such

a line crosses their cornea [it won’t].) 51 A PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? --Heterochromia iridis --Synophrys What the heck is dystopia canthorum? --Dystopia canthorum Lateral displacement of the canthi (ie, telecanthus) PLUS laterally displaced lacrimal puncta What non-ophthalmic finding is classic for Waardenburg syndrome? How onThe earth presence are you supposedof a white to forelock recognize (ie that, an the isolated puncta arestreak too lateral?of white hair Draw inan theimaginary forehead vertical region) line from the upper to the lower puncta. If this line crosses the cornea, the puncta are displaced. (Next time you examine a pt at the slit-lamp, take note of whether such

a line crosses their cornea [it won’t].) 52 Congenital lid abnormalities: Matching

Dystopia canthorum. Note the telecanthus, and laterally displaced lacrimal puncta

53 Q PAX Ophthalmicana

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? -- Heterochromia iridis --Synophrys --Dystopia canthorum

What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

54 A

Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? -- Heterochromia iridis --Synophrys --Dystopia canthorum

What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region)

55 Waardenburg Syndrome

What 3 ophthalmic findings are classic for Waardenburg syndrome? -- Heterochromia iridis --Synophrys --Dystopia canthorum

What non-ophthalmic finding is classic for Waardenburg syndrome? The presence of a white forelock (ie, an isolated streak of white hair in the forehead region) aardenburg hite forelock W 56 Congenital lid abnormalities: Matching

Waardenburg syndrome: White forelock

57 Congenital lid abnormalities: Matching

Note that Waardenburg syndrome has forms that do not involve heterochromia

58 59 Q PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

Generally speaking, what are PAX genes involved in? Morphogenesis

Of these three PAX genes, which is most important to the development of the eye? PAX6. The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.”

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? Last and most definitely least…PAX2 mutations present --PAX2 with colobomas of the optic nerve, and renalnon-eye hypoplasia --PAX3 --PAX6 60 A PAX Ophthalmicana

In the present context, what is the origin of the word PAX? Where does it come from? It is a portmanteau of the term ‘PAired (homeo)boX’

Generally speaking, what are PAX genes involved in? Morphogenesis

Of these three PAX genes, which is most important to the development of the eye? PAX6. The Fundamentals book refers to it as “the master switch for eye development.” The Peds book says, “The PAX6 gene is the master control gene for eye morphogenesis.”

The Fundamentals book lists three transcription-factor (genes) that re especially important for the eye—what are they? Last and most definitely least…PAX2 mutations present -- PAX2 with colobomas of the optic nerve, and renal hypoplasia --PAX3 --PAX6