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Aetiology Ofsevere Visual Impairment and Blindness in Microphthalmos 333 332 BritishJournal ofOphthalmology 1994; 78: 332-334 Aetiology of severe visual impairment and blindness in microphthalmos Br J Ophthalmol: first published as 10.1136/bjo.78.5.332 on 1 May 1994. Downloaded from Mark J Elder Abstract a group of patients with microphthalmos who Microphthalmos occupies a spectrum from were bilaterally legally blind. a normal, but small globe, to a globe with multiple anterior and posterior segment abnor- malities. This study examines 54 eyes of 27 Patients and methods patients who had bilateral microphthalmos and All six academic blind schools of the West Bank severe visual impairment or blindness. Con- and Gaza strip were visited prospectively, and genital cataract was the commonest cause of the children examined. 6 There were 241 children severe visual impairment (44%), followed by aged from 5 to 25 years with visual acuities less presumed retinal or optic nerve displasia (30%) than 6/60, irrespective of their ocular diagnosis. and chorioretinal coloboma (22%). Lensec- There were no exclusion criteria. tomy was followed by phthisis bulbi in 3/23 Each school was visited by the 'Outreach' cases and retinal detachment in 2/23 cases. facility of the St John Ophthalmic Hospital, There were no cases of angle closure glau- Jerusalem, which is a well equipped mobile coma. The three clinical conditions associated clinic. A complete history was taken and the with a poor prognosis were cataract, chorio- previous medical records were reviewed. A full retinal coloboma, and a markedly reduced examination was conducted, including best cor- corneal diameter. A corneal diameter of 6 mm rected visual acuity with Sheridan-Gardner test or less was associated with a visual acuity ofno charts, colour vision assessment, visual field perception of light in 81% (21/26) compared testing by confrontation, slit-lamp biomicro- with 4% (1/28) ofthose with larger corneas. scopy, retinoscopy, cycloplegic refraction, and (BrJ Ophthalmol 1994; 78: 332-334) funduscopy. The corneal diameters were measured as the horizontal meridian from 'white to white' using the adjustable length of the light Microphthalmos is an ocular defect where the beam of a standard Topcon slit-lamp. When overall size of the globe is smaller than normal. indicated, children were sent to the base hospital The condition has been classified into simple or for further investigations such as ultrasound. All complex microphthalmos. '- Simple micro- microphthalmic patients in this study were phthalmos is where the globe is small, but examined by the author. http://bjo.bmj.com/ otherwise normal. This is also called pure micro- The criterion for inclusion was bilateral micro- phthalmos or nanophthalmos. Complex, or com- phthalmos with a best corrected visual acuity of plicated, microphthalmos is where the globe has less than 6/60 in the better seeing eye. This other associated abnormalities. Both types may corresponds to the standard WHO definitions of be associated with an orbital cyst or other sys- reduced childhood visual acuity of severe visual temic abnormalities or syndromes. In general, impairment (>6/60 to 3/60) and blindness microphthalmos is congenital but occasionally (>3/60 to no perception of light (NPL)). Statis- on October 3, 2021 by guest. Protected copyright. may be acquired because of arrested develop- tical analysis used X2 with a Yates' correction. ment. Microphthalmos can be defined as an eye with an axial length more than 2 SD smaller than the Results normal for that age group. This equates to an Within the total of 241 patients examined, there axial length less than 19-2 mm at age 1 year and were 27 patients with bilateral microphthalmos less than 20-9 mm as an adult.' There is a strong who had a visual acuity ofless than 6/60 and were linear correlation between the horizontal corneal examined by the author. The mean age was 10 3 diameter and the axial length from diameters of years and ranged from 5 to 20 years. A positive 2 mm to mm.' family history was present in 37%. The aetiology The ocular abnormalities associated with com- of visual impairment was divided into three plex microphthalmos are broadly subdivided categories; cataract, retinal, and unknown. Each into anterior segment dysgenesis, lens abnor- eye was allocated to its respective category by malities, chorioretinal coloboma, retinal dys- clinically determining the factor which was the plasia, and persistent hyperplastic primary major contributor to the visual impairment. vitreous (PHPV).'-"2 Syndromes associated with These data, along with other ocular abnor- microphthalmos number more than 100 and all malities, are detailed in Tables 1-3. Nystagmus St John Ophthalmic modes of inheritance have '3 Hospital, PO Box 19960, been described. was present in all cases. There were no cases of Jerusalem, Israel Systemic syndromes include the Hallerman- simple microphthalmos and no patient had facial M J Elder Strieff syndrome,'4 the Meckel-Gruber syn- malformations. Clinically, the vitreous, retina, Correspondence to: drome, trisomy 13, and the cerebro-oculofacio- and optic nerve head were able to be visualised Mark Elder, 36 Sinclair Road, 13 1" London W14 ONH. skeletal (COFS) syndrome. and examined unless stated otherwise. Accepted for publication The aim of this study was to determine the Within the cataract group, all patients had a 24 November 1993 main mechanisms causing impaired vision within diagnosis of cataract before the age of 6 months Aetiology ofsevere visual impairment and blindness in microphthalmos 333 Table I Bilateral blindness in microphthalmos primarily due to cataract and therefore had 'congenital' cataract. Only two patients had not had a previous lensectomy and Corneal Patient Age diameter Visual Primary cause Other ocular no patient had received an intraocular lens either No (years) (nm) acuity ofblindness abnormalities as a primary or a secondary procedure. Patient 2 Br J Ophthalmol: first published as 10.1136/bjo.78.5.332 on 1 May 1994. Downloaded from 1 5 8-5 3/60 Congenital cataract had no perception oflight bilaterally and 5 0 mm 8-5 3/60 Congenital cataract diameter corneas and surgery had not been 2 7 5 0 NPL Congenital cataract No fundal view 5 0 NPL Congenital cataract No fundal view offered. Patient 10 had a lensectomy in one eye 3 7 9 0 PL Congenital cataract Retinal detachment which revealed PHPV. This eye eventually had 9 0 NPL Congenital cataract Retinal detachment 4 7 8-0 HM Congenital cataract Thickened capsule NPL postoperatively and surgery was not per- 8-0 4/60 Congenital cataract formed in the other eye. Of the 23 lensectomies 5 8 8-0 PL Congenital cataract Macula coloboma 8-0 CF Congenital cataract Macula coloboma performed, the major complications were 6 9 7 0 PL Congenital cataract Aniridia, corneal scar phthisis bulbi (3/23) and retinal detachment 7 0 PL Congenital cataract Aniridia 7 10 4-0 NPL Congenital cataract Phthisis post surgery (2/23). Glaucoma was diagnosed after ocutome 4-0 NPL Congenital cataract Phthisis post surgery lensectomy in three eyes but it could not be 8 10 6-0 CF Congenital cataract Optic atrophy 6-0 NPL Congenital cataract Phthisis post surgery determined whether this was a primary abnor- 9 12 7 0 3/60 Congenital cataract mality or secondary to the surgery. The angles 8-5 1/60 Congenital cataract 10 13 5 0 NPL Congenital cataract PHPV were open in all cases. 5 0 PL Congenital cataract No fundal view Within the group of patients with a pre- 11 15 8-0 4/60 Congenital cataract 8-0 2/60 Congenital cataract Infantile glaucoma dominantly retinal cause for their blindness, 12 20 8-0 2/60 Congenital cataract Infantile glaucoma chorioretinal coloboma involving the macula 8-0 HM Congenital cataract Infantile glaucoma affected 12/14 eyes and myopic chorioretinal CF=counting fingers; HM=hand movements; NPL=no perception of light; PHPV=persistent degeneration affected 2/14 eyes. Other ocular hyperplastic primary vitreous; congenital cataract=cataract present before 6 months of age. abnormalities within this group were common. All patients except No 2 and the right eye of No 11 had previous lensectomies. Cataract was present in 4/14 eyes but in each case was mild and in another two cases had been Table 2 Bilateral blindness in microphthalmos primarily due to retinal abnormalities surgically removed. Mild cataract was defined as Corneal clinically insufficient to significantly impair the Patient Age diameter Visual Primary cause Other ocular visual acuity. No (years) (mm) acuity ofblindness abnormalities Table 3 details the group for whom a specific 13 5 9 0 4/60 Chorioretinal coloboma ON coloboma, cataract cause of visual impairment could not be deter- 8-0 3/60 Chorioretinal coloboma ON coloboma, cataract 14 8 8-0 CF Chorioretinal coloboma Squint mined. All but 2/16 eyes had NPL. In all cases, it 8-0 4/60 Chorioretinal coloboma Mild cataract was claimed that the child had been 'blind' from 15 10 5-5 PL Chorioretinal coloboma Iris dysplasia 6-0 NPL Chorioretinal coloboma Iris dysplasia, mild birth, rather than having a gradual deterioration cataract in vision. No eye had undergone surgery. The 16 13 9 0 1/60 Chorioretinal coloboma Cataract removed 9 0 2/60 Chorioretinal coloboma Cataract removed mean corneal diameters were smaller than in the 17 15 9 0 4/60 Chorioretinal coloboma cataract and retinal group; 5 0 mm v TI7 mm and 8-5 3/60 Chorioretinal coloboma 18 8 8-0 2/60 Chorioretinal coloboma 8-0 mm respectively. Six eyes had sclerocornea 8-0 PL Chorioretinal coloboma Retinal detachment and an adequate fundal view was not possible in http://bjo.bmj.com/ 19 10 8-0 5/60 Degenerative myopia -9 0 sphere 8-0 5/60 Degenerative myopia -9 0 sphere any of these 16 eyes.
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