Mordechai et al. (2011) studied a large consanguineous Israeli Bedouin kindred segregating autosomal recessive nonsyndromic severe myopia with variable expressivity of cataract and vitreoretinal degeneration. The 13 affected family members all presented with poor eyesight in childhood, and ... Mordechai et al. (2011) studied a large consanguineous Israeli Bedouin kindred segregating autosomal recessive nonsyndromic severe myopia with variable expressivity of cataract and vitreoretinal degeneration. The 13 affected family members all presented with poor eyesight in childhood, and all had axial myopia, with increased axial lengths ranging between 25.1 mm and 30.5 mm. Eleven patients developed cataracts that were significant enough to warrant surgery in 1 or both eyes, usually in the first or second decade of life. In 3 patients, subluxated lenses were detected, and were associated with cataract in 2 patients and with lens coloboma in 1 patient. In an additional 5 patients, lens instability due to weak or partially missing lens zonules was found during cataract surgery, resulting in postoperative aphakia in 4 patients because it was impossible to insert the intraocular lens. Peripheral vitreoretinal degenerative changes were observed in 9 of the 13 affected family members, 4 of whom developed retinal tears causing retinal detachment in 1 or both eyes. In 3 patients, surgically unresponsive retinal detachments led to blindness in 1 eye. Examination by a clinical geneticist revealed no apparent dysmorphology in any of the affected individuals.
In a large consanguineous Israeli Bedouin kindred with nonsyndromic severe myopia with cataract and vitreoretinal degeneration mapping to chromosome 3q28, Mordechai et al. (2011) analyzed 6 candidate genes and identified homozygosity for a missense mutation in the LEPREL1 ... In a large consanguineous Israeli Bedouin kindred with nonsyndromic severe myopia with cataract and vitreoretinal degeneration mapping to chromosome 3q28, Mordechai et al. (2011) analyzed 6 candidate genes and identified homozygosity for a missense mutation in the LEPREL1 gene (G508V; 610341.0001) that segregated fully with disease in the family and was not found in 200 ethnically matched controls.