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Blue Sclera with and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469 Mutation (P

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Blue Sclera with and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469 Mutation (P in situ where disc and retinal assessments are essential Ophthalmic examination revealed visual acuity of no and for preoperative evaluation if therapeutic IOL ex- light perception OU. Both eyes were phthisical, had blue change to transparent media is considered. sclera, and were soft to palpation. Moreover, the observed ability of occlusive IOLs to General assessment revealed a well-nourished alert boy transmit infrared light suggests the potential for devel- with normal vital signs and chestnut-colored hair. Height, opment of infrared light–based assessment tools such as weight, and head circumference were age appropriate. Skin Snellen charts for this patient group. was thin, velvety, and without abnormal elasticity. Subcu- taneous veins were easily appreciated. There were scat- Chetan K. Patel, BSc, FRCOphth tered small scars on all extremities and a large one at the Imran H. Yusuf, MBChB (Hons), MRes right elbow where a small surgical incision had been made. Victor Menezo, FRCOphth There was no joint hypermobility (Beighton score 2/9) or Author Affiliations: Oxford Eye Hospital, John Rad- scoliosis. Oral inspection revealed grossly normal denti- cliffe Hospital, Oxford, England. tion and a slightly arched palate. Extremity assessment re- Correspondence: Dr Patel, Oxford Eye Hospital, Ox- vealed bilateral valgus foot (talipes valgus) and hallux val- ford Radcliffe Hospitals National Health Service Trust, gus, which were confirmed by plain-film radiography. West Wing, John Radcliffe Hospital, Headley Way, Head- Skeletal plain-film radiography showed normal bone den- ington, Oxford OX3 9DY, England (ckpatel@btinternet sities without evidence for fractures. Complete blood cell .com). count and electrolyte levels were within normal limits. Financial Disclosure: None reported. Case 2. Sibling 2 is an 8-year-old girl (Figure 2). She had blue sclera since birth. There was a vague history of 1. Hadid OH, Wride NK, Griffiths PG, Strong NP, Clarke MP. Opaque intra- a dislocation in the right forearm following trauma at age ocular lens for intractable diplopia: experience and patients’ expectations and satisfaction. Br J Ophthalmol. 2008;92(7):912-915. 1 year that did not require surgery. She was treated medi- 2. Wong SC, Islam N, Ficker L. Black occlusive IOLs. Ophthalmology. 2007;114 cally for congenital glaucoma until age 5 years, at which (12):2365. time she was diagnosed as having keratoglobus without 3. Choyce DP. Black intraocular lens for leukocoria. J Cataract Refract Surg. 2001; 27(2):179-180. evidence of glaucoma. Cycloplegic refraction at age 4 years 4. Osher RH, Snyder ME. Phakic implantation of a black intraocular lens in a was approximately plano in both eyes and fundus ex- blind eye with leukocoria. J Cataract Refract Surg. 2003;29(4):839-841. amination results were unremarkable. Protective glasses 5. Sandy CJ, Wilson S, Brian Page A, Frazer DG, McGinnity FG, Lee JP. Phaco- emulsification and opaque intraocular lens implantation for the treatment of were stressed but were not used. At age 7 years, she had intractable diplopia. Ophthalmic Surg Lasers. 2000;31(5):429-431. a minor trauma in the left eye that led to Descemet mem- brane detachment and associated corneal edema, for which she had surgical repositioning of the Descemet mem- brane via air bubble injection. Ophthalmic examination revealed visual acuity of 20/ Blue Sclera With and Without Corneal 30 OD and 20/400 OS, with no improvement by pinhole. Fragility (Brittle Cornea Syndrome) in a Both eyes had keratoglobus and blue sclera and had grossly Consanguineous Family Harboring ZNF469 normal intraocular pressure by digital palpation. Slitlamp Mutation (p.E1392X) examination revealed thin corneas with keratoglobus and in the left eye corneal haze corresponding to the area of lue sclera with corneal fragility characterizes prior Descemet membrane detachment. At age 6 years, brittle cornea syndrome (BCS) (OMIM #229200), cycloplegic refraction was ϩ0.75−1.50ϫ042 OD and B an underrecognized predominantly ocular dis- −11.00−2.50ϫ090 OS with scissoring of the reflex. Fun- order that is often confused with Ehlers-Danlos syn- dus examination results were within normal limits. drome (EDS).1 Brittle cornea syndrome has recently been General assessment revealed a thin alert girl with nor- associated with recessive mutation in ZNF469, which en- mal vital signs and chestnut-colored hair. Height, weight, codes a classic zinc-finger protein that is likely involved and head circumference were age appropriate; however, she in synthesis and/or organization of corneal collagens.2,3 did have an appearance of frontal bossing and the calvaria In this report, we describe the phenotype/genotype cor- was irregular to palpation. Skin was thin, velvety, without relation for blue sclera with or without BCS in all 3 chil- abnormal elasticity, and without scars. Subcutaneous veins dren of a consanguineous, asymptomatic Syrian couple. were easily appreciated. There was significant joint hyper- laxity (Beighton score 9/9). Oral inspection revealed poor Report of Cases. Case 1. Sibling 1 is a 13-year-old boy dental hygiene and an arched palate. The sternum pro- (Figure 1). He had blue sclera since birth and history truded outward slightly (pectus carinatum). Scoliosis was of hernia repair, the details of which were not available. not present but lumbar lordosis seemed exaggerated. Ex- At age 2 years following minor trauma, he had bilateral tremity assessment revealed bilateral talipes valgus. Skel- corneal rupture and underwent multiple corneal opera- etal plain-film radiography confirmed the irregular cal- tions that led to phthisis. It was suspected that he had varia, exaggerated lumbar lordosis, and bilateral talipes congenital glaucoma. At approximately age 5 years, he valgus; bone densities were normal. Complete blood cell had slightly decreased hearing following recurrent ear in- count and electrolyte levels were within normal limits. fections; this resolved with medical treatment and his hear- Case 3. Sibling 3 is a 4-year-old girl (eFigure 1; http: ing is now considered normal. At age 12 years, he had a //www.archophthalmol.com). This healthy-appearing, right forearm dislocation following a significant fall down alert girl with blue sclera since birth had normal vital signs stairs that required surgical pinning. and chestnut-colored hair. Other than blue sclera, re- (REPRINTED) ARCH OPHTHALMOL / VOL 128 (NO. 10), OCT 2010 WWW.ARCHOPHTHALMOL.COM 1376 ©2010 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/25/2021 A B C D R Figure 1. Sibling 1. A, Blue sclera, phthisical eyes, and small forehead skin scars are seen. Similar skin scars were scattered on the extremities. B, Abnormal skin scarring occurred following small-incision surgery to pin a dislocated forearm. C, Talipes valgus can be appreciated as well as multiple small skin scars. D, Plain-film radiography confirms talipes valgus. R indicates right. sults from complete ocular examination, directed physi- type VI was known as the ocular subtype of EDS, in fact cal examination, and laboratory investigations were ap- ocular fragility in EDS type VI is less frequent than was propriate for her age. originally thought.1,4 Ehlers-Danlos syndrome type VI can Parents. The father is aged 35 years, and the mother be clinically distinguished from BCS as the former in- is aged 37 years. Both parents were alert, were healthy, cludes symptomatic obvious nonocular signs in chil- and had chestnut-colored hair. They had unremarkable dren, while the latter is characterized by obvious ocular results on ocular examinations and no history of skin dis- disease in children with subtle nonocular findings. Chil- ease, abnormal healing, hyperflexibility, joint disloca- dren with EDS type VI have muscular hypotonia from tions, or spine or extremity deformity. birth, generalized joint laxity, congenital and progres- ZNF469 Analysis. The family had ZNF469 (GenBank sive kyphoscoliosis, radiographically confirmable osteo- NM_001127464.1) analysis performed (eFigure 2).The penia, skin elasticity that is typical for EDS, and a risk of 2 older children (siblings 1 and 2) were homozygous for sudden death from arterial rupture.1,4 In addition, when a novel mutation p.E1392X (c.4174GϾT), while the ocular rupture does occur in EDS type VI, it tends to be youngest child with blue sclera only (sibling 3) and the scleral rather than corneal.1,4 Ehlers-Danlos syndrome type 2 parents were heterozygous for the mutation (primers VI is due to recessive mutation in the gene for lysyl hy- and conditions are available in the eTable). droxylase 1 (PLOD1 [OMIM *153454]). In the current family, the youngest sister had blue sclera Comment. Brittle cornea syndrome has been confused only and was a carrier for the mutation. In the context of with EDS, particularly EDS type VI (OMIM #225400), her older affected siblings, this was phenocopy for the dis- which is also associated with blue sclera.1,4 Although EDS ease. Interestingly, 2 previously described families with BCS (REPRINTED) ARCH OPHTHALMOL / VOL 128 (NO. 10), OCT 2010 WWW.ARCHOPHTHALMOL.COM 1377 ©2010 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/25/2021 A C 0.005 mm Color Steps Elevation BFS Elevation BFS 0.005 mm Color Steps 90 90 105 75 7.75 mm/43.6 D 6.84 mm/49.3 D 105 75 Anterior 120 60 120 60 Posterior Float Float 135 45 Diff: 0.019 mm Diff: – 0.010 mm 135 45 Meridian: 103° Meridian: 103° 0.075 150 30 Radius: 0.9 mm
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