Inherited retinal dystrophies in a Kuwaiti tribe.

PURPOSE: To evaluate the clinical and genetic spectrum of inherited retinal diseases (IRDs) in a Kuwaiti tribe. METHODS: Forty four patients with IRDs from 28 nuclear families from the tribe, were evaluated for presenting symptoms, visual acuity, fundus examination, OCT, microperimetry, full-field (ff), and multifocal electroretinography (mERG) and genotyping. RESULTS: Seventeen patients were diagnosed with autosomal recessive retinitis pigmentosa (arRP) associated with RP1 c.606C>A with onset of nictalopia in the third decade, myopia, and macular atrophy by the age of 50; eleven with autosomal recessive cone/rod dystrophy or macular dystrophy associated with RP1 c.606C>A (p.Asp202Glu) mutation with color and central vision deterioration in teenage, myopia, paracentral ring scotoma and macular atrophy; eleven were with arRP associated with PDE6B c.992 + 1 G > A mutation with onset around 5 years, myopia, cataract, retained central fixation, and ellipsoid zone and late perimacular atrophy; five-with Leber congenital amaurosis associated with homozygous RPGRIP1 for c.1107delA mutation with extinguished ffERG and electrophysiological phenotype of rod and cone; and one patient-with autosomal recessive rod-cone dystrophy associated with homozygous PDE6B c.992 + 1 G > A, who was homozygous ABCA4 c.5882 G > A and heterozygous EYS; c.2137 + 1 G > A. CONCLUSIONS: This study represents a typical tribe from the Middle East with high rate of consanguinity for many generations that harbors multiple mutated genes associated with IRD. It demonstrates the predominant phenotype and its variability in retinal disorders caused by identical mutations and illustrates the nuances in the clinical presentation and disease progression of patients with pathogenic mutations in more than one gene.

Cataract surgery assisted by anterior endoscopy.

AIM: The aim of the present study is to evaluate the feasibility of endoscopy-assisted phacoemulsification, intraocular lens (IOL) implantation and anterior segment manoeuvres like synechiotomy where conventional surgery through a microscope view was not possible due to corneal opacification. METHODS: This is a prospective, non-comparative, case report series of nine consecutive patients who underwent endoscopy-assisted anterior segment surgery in Al Bahar Eye Center in Kuwait. A fused fibre-optic type of endoscope was used to aid in performing phacoemulsification, to identify the position of haptics of IOL and synechiotomy. RESULTS: Out of a total of nine patients, seven patients underwent endoscopic-assisted phacoemulsification. In case 7, the endoscope was used to sever irido-corneal synechae. In case 8, the endoscope was used to identify the position of the haptics of IOL in a partially dilated pupil. In case 9, endocyclophotocoagulation (ECP) was done after phacoemulsification. Vision improvement occurred in all cases. No intraoperative or postoperative complications related to either the surgery or the use of the endoscope were observed. CONCLUSION: The ophthalmic microendoscope appears to be safe and effective in simultaneously providing illumination, video recording and a clear endoscopic view of the anterior chamber. This study demonstrates that in selected cases, anterior segment endoscopy is a useful adjuvant to cataract surgery.