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Supplementary Materials: Supplementary table 1. Demographic details for the 54 individual patients (solved/unsolved) and their clinical features including cataract type, details of ocular co-morbidities, systemic features and whether cataract was the presenting feature (non-isolated cataract patients only). Abbreviations: yes (Y), no (N), not applicable (N/A). Age at Famil Ag M/ Age at Cataract Cataract Cataract Systemic Consanguinit Patient ID Gene Confirmed genetic diagnosis Ethnicity diagnosi Ocular co-morbidities FH y ID e F surgery type RE type LE presenting sign features y s (days) Aniridia, nystagmus, 23 years Posterior Posterior 1-1 1 PAX6 Aniridia White British 25 F - glaucoma, foveal N N N Y 4 months subcapsular subcapsular hypoplasia Cleft palate, epilepsy, high Aphakia Aphakia Macular atrophy, myopia, 7 years 9 7 years 8 arched palate, 2-1 2 COL11A1 Stickler syndrome, type II Not Stated 34 F (post- (post- lens subluxation, vitreous N N N months months flattened surgical) surgical) anomaly maxilla, short stature (5'2ft) Anterior segment dysgenesis, pupillary abnormalities including 12 years Posterior Posterior ectopic pupils, ectropion 3-1 3 CPAMD8 Anterior segment dysgenesis 8 Other, Any other 27 F - N N Y N 5 months subcapsular subcapsular UVAE and irodensis, nystagmus, dysplastic optic discs, large corneal diameters Gyrate atrophy of choroid and 23 years 29 years 1 Posterior Posterior Retinal dystrophy, Bipolar 4-1 4 OAT White British 42 F N N N retina 7 months month subcapsular subcapsular exotropia disorder 1 year 6 1 year 6 Pseudopha Pseudopha Microcornea, nystagmus, Y with 5-1 5 EPHA2 Cataract 6, multiple types White British 43 F Migraine N Y months months kia kia esotropia microphthalmia Aphakia Aphakia Microcornea, micropthalma Y with 5-2 5 EPHA2 Cataract 6, multiple types White British 5 M 1 month 1 month (post- (post- N N Y nystagmus microphthalmia surgical) surgical) Developmenta l delay, benign Retinal dystrophy, optic essential Negative/u 20 years Posterior 6-1 6 - White, Any other 26 M - Dense atrophy, epiretinal N tremor(normal N N nsolved 6 months subcapsular membrane MRI), sensorineural hearing loss Sib Learning lin 23 years 24 years 1 Posterior Posterior Retinal dystrophy, macular 7-1 7 AGBL5 Retinitis pigmentosa 75 White, Any other 31 F N difficulties, Y g 9 months month subcapsular subcapsular oedema obesity onl y Asian 12 years Retinal dystrophy, 8-1 8 RPE65 Leber congenital amaurosis 2 13 M - Blue dot Blue dot No No Y N Bangladeshi 5 months nystagmus <1 2 years 8 9-1 9 CRYBB2 Cataract 3, multiple types White British 12 F month "congenital" "congenital" Myopia N/A N N Y months (21 days) <1 9-2 9 CRYBB2 Cataract 3, multiple types White British 4 M month 3 months "congenital" "congenital" N N/A N N Y (25 days) 10-1 10 HSF4 Cataract 5, multiple types Other, any other 2 M 2 months 2 months "congenital" "congenital" N N/A N N Y Negative/u 1 year 5 1 year 8 11-1 11 - Other, Any other 4 M Nuclear Nuclear Anisometropia N/A N Y Y nsolved months months Pseudopha Pseudopha 12-1 12 RBP3 Retinitis pigmentosa 66 Not Stated 29 M 17 years 17 years Retinal dystrophy, myopia Yes No N N kia kia Aniridia, nystagmus, Posterior Posterior persistent pupillary 13-1 13 PAX6 Aniridia White British 8 F 3 months - Yes with aniridia No N N cortical cortical membrane, foveal hypoplasia, Myopia, nystagmus, exudative Negative/u 23 years Posterior Posterior vitreoretinopathy, vitreous 14-1 14 - White, Any other 29 F 27 years N N N N nsolved 6 months subcapsular subcapsular haemorrhage, optic nerve head myelination, reitnal detachment Negative/u Asian 10 years 13 years 2 High myopia, 15-1 15 - 15 M Nuclear Blue dot N Obesity N N nsolved Bangladeshi 4 months months viteroretinopathy < 1 16-1 16 CRYAA Cataract 9, multiple types White British 5 F month 3 months "congenital" "congenital" N N/A N N Y (12 days) Negative/u Left superior oblique 17-1 17 - White British 24 M 8 years - Lamellar Lamellar N/A N N N nsolved muscle palsy Sib Aphakia Aphakia lin Negative/u 18-1 18 - White British 20 M At birth 1 month (post- (post- N N/A N N g nsolved surgical) surgical) onl y 19-1 19 CRYBB3 Cataract 22 Other, any other 32 M 2 days 3 months Aphakia Aphakia Nystagmus N/A N N N Myeloprolifera tive disorder Negative/u Pseudopha Pseudopha Macular dystrophy, band 20-1 20 - White British 29 M 5 years 4 years N/A (splenectomy N N nsolved kia kia keratopathy, esotropia and liver transplant) Negative/u 3 years 7 Lamellar Lamellar 21-1 21 - White British 15 M - Myopia, esotropia N/A Migraine N N nsolved months pulverulent pulverulent < 1 "Dense "Dense 22-1 22 CRYBB2 Cataract 3, multiple types White, British 7 M month 1 month N N/A N N N central" central" (13 days) Sib lin 27 years 7 Pseudopha Pseudopha 23-1 23 BFSP1 Cataract 33, multiple types White, British 46 M 2 years High myopia N/A N N g months kia kia onl y Sib lin 4 years 4 4 years 4 23-2 23 BFSP1 Cataract 33, multiple types White, British 14 M "congenital" "congenital" N N/A N N g months months onl y 15 years 16 years 8 Posterior Posterior 24-1 24 PRPF8 Retinitis pigmentosa 13 Arab 17 F Retinal dystrophy No No N N 6 months months subcapsular subcapsular 24 years Aniridia, foveal hypoplasia, 25-1 25 PAX6 Aniridia Other, Any other 31 M 10 - Cortical Cortical Yes with aniridia No N Y nystagmus months Asthma, autism, developmental Retinal dystrophy, delay, learning Black African 6 years 6 6 years 6 Anterior Anterior nystagmus, achromatopsia, difficulties, 26-1 26 ALMS1 Alstrom syndrome 11 F N N N (Nigerian) months months subcapsular subcapsular mild hypermetropia, diabetes exotropia mellitis, obesity, acanthosis nigracans. Normal height (25th-50th centile). Normal cardiac function. 5 years 7 Marfan 27-1 27 NHS Cataract 40, X-linked White, British 68 M 2 years Aphakia Aphakia Nystagmus N/A N Y months syndrome Asian 28-1 28 CRYBB2 Cataract 3, multiple types 34 M 20 years - Aphakia Aphakia N N/A N N Y Bangladeshi Anterior/po Anterior/po sterior sterior Asian 28-2 28 CRYBB2 Cataract 3, multiple types 12 M 10 years - subcapsular subcapsular Myopic astigmatism N/A N N Y Bangladeshi and blue and blue dot dot 7 years Asian Sutural/blu Sutural/blu 28-3 28 CRYBB2 Cataract 3, multiple types 10 M 11 - Myopic astigmatism N/A N N Y Bangladeshi e dot e dot months Asian 4 years 4 28-4 28 CRYBB2 Cataract 3, multiple types 7 F 21 years Blue dot Blue dot Myopic astigmatism N/A N N Y Bangladeshi months Negative/u 6 years 2 Posterior Posterior Yes with retinal 29-1 29 - Not Stated 6 M 4 years Retinal dystrophy N Y N nsolved months subcapsular subcapsular changes Negative/u Asian 30-1 30 - 3 M 8 months 10 months "congenital" "congenital" Nystagmus Yes No N Y nsolved Bangladeshi Negative/u Developmenta 31-1 31 - White British 2 M 2 months 3 months Blue dot Blue dot Nystagmus, esotropia N/A N N nsolved l delay Negative/u 16 years 8 32-1 32 - White British 15 M 14 years Blue dot Blue dot N N/A ADHD N N nsolved months Negative/u Mixed 2 years 4 2 years 7 Cortical/len Cortical/len 33-1 33 - 4 F Exotropia, myopia, N/A N N Y nsolved White/Pakistani months months ticular ticular 34-1 34 GJA8 Cataract 1, multiple types White British 3 F 2 months 2 months "congenital" "congenital" N N/A N N N Negative/u Anterior Anterior 35-1 35 - Other, Any other 2 F 4 months - N N/A N N N nsolved polar polar Type 1 diabetes, deafness, renal Negative/u 36 years 7 Posterior Posterior Retinal detachment, retinal 36-1 36 - Asian, Pakistani 39 M 23 years N failure. No N N nsolved months subcapsular subcapsular dystrophy, macular atrophy cardiac manifestations . 37-1 37 NHS Cataract 40, X-linked Other, any other 1 M 2 months 2 months Nuclear Nuclear N N/A N N N < 1 Negative/u Anterior Anterior 38-1 38 - White British 2 F month (7 - Anisometropia N/A N N N nsolved polar polar days) Ehlers Danlos syndrome, severe asthma, Posterior Posterior Negative/u 11 years Generalised rod eczema, 39-1 39 - Not Stated 12 M - subcapsular subcapsular Y N N nsolved 5 months dysfunction multiple food / blue dot / blue dot allergies, eosinophillic oesophagitis Asthma, Aphakia Aphakia allergy 40-1 40 CRYBB2 Cataract 3, multiple types Arab 6 F At birth 2 months (post- (post- Blepharitis, esotropia N/A N Y (sweetcorn, surgical) surgical) nuts, eggs) 40-2 40 CRYBB2 Cataract 3, multiple types Arab 1 F At birth 2 months "congenital" "congenital" N N/A N N Y Unknow 41-1 41 CHMP4B Cataract 31, multiple types White, Any other 55 M - Aphakia Aphakia N N/A N N Y n 3 years 7 3 years 8 Posterior Posterior 41-2 41 CHMP4B Cataract 31, multiple types White, Any other 4 F N N/A N N Y months months subcapsular subcapsular Posterior Posterior 42-1 42 CRYBA1 Cataract 10, multiple types Asian, Any other 1 M 4 months - N N/A N N Y subcapsular subcapsular Developmenta Asian 11 years l delay, 43-1 43 CYP27A1 Cerebrotendinous xanthomatosis 13 F - Blue dot Blue dot Myopic astigmatism Y Y N Bangladeshi 8 months intellectual disability Neuropathy, myopathy, Unknow Anterior 44-1 44 CRYAB Cataract 16, multiple types Not stated 62 M - Blue dot N Y diaphragmatic N Y n polar weakness and hypertension 44-2 44 CRYAB Cataract 16, multiple types Not stated 30 M At birth - Aphakia Aphakia N Y N N Y < 1 Sutural/blu Sutural/blu Muscular 44-3 44 CRYAB Cataract 16, multiple types Not stated 28 F month (3 4 months N Y N Y e dot e dot weakness weeks) .
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  • Retinitis Pigmentosa Associated with Ectopia Lentis

    Retinitis Pigmentosa Associated with Ectopia Lentis

    CLINICOPATHOLOGIC REPORTS, CASE REPORTS, AND SMALL CASE SERIES SECTION EDITOR: W. RICHARD GREEN, MD tion of the oil progressing through the In January 2001, glaucoma sur- Silicone Oil Egressing tube and histopathologic analysis of gery was needed to control elevated Through an Inferiorly the orbital tissue surrounding the ex- intraocular pressure (IOP). The eye Implanted Ahmed Valve truded silicone oil. was aphakic and had total traumatic aniridia. An Ahmed valve was im- Silicone oil use as an adjunct to com- Report of a Case. A 69-year-old white planted inferonasally in an attempt plicated vitreoretinal surgery is be- man lost his left eye to trauma at age to avoid the silicone oil bubble coming more frequent. Refractory 12 years. In September 2000, blunt (Figure 1 and Figure 2). The pa- glaucoma in these patients is com- trauma resulted in a lacerated eye- tient’s IOP responded well initially mon. Isolated reports have men- brow, scleral rupture, uveal prolapse, but rose subsequently to 30 mm Hg. tioned the possibility of silicone oil extrusion of his crystalline lens, reti- A bubble of silicone oil was wrap- migrating and/or obstructing the nal detachment, and suprachoroidal ping the tip of the tube (Figure 3). tube in the anterior chamber of Mol- hemorrhage in his right eye. A limited Silicone oil could be seen migrating teno implants (IOP, Costa Mesa, anterior chamber washout was per- through the Ahmed tube (Figure 4 Calif).1,2 This report describes a case formed at the time of the primary re- and Figure 5) and the bleb over the of intraocular silicone oil egressing pair.