Medical Genetics, Harran Universitesi Tip Fakultesi, Sanliurfa, Turkey.
Sanliurfa Research and Training Hospital, Sanliurfa, Turkey.
Fetal Pediatr Pathol. 2020 Jun;39(3):251-258. doi: 10.1080/15513815.2019.1644687. Epub 2019 Jul 25.
: Leber congenital amaurosis (LCA) is a subgroup of early onset retinal dystrophy, manifesting with early or congenital visual loss, wandering nystagmus, amaurotic pupils, oculodigital sign, reduced retinal thickness on optical coherence tomography and abnormal electroretinogram. Today, mutations of about 25 genes account for 80% of individuals with LCA. The mutations causing LCA type 4 account for about 5-10% of this group. Three affected siblings with vision loss, nystagmus, cataracts, stage 4 keratoconus, retinal abnormalities (black spots), lack of glaucoma, and dysmorphic features from a consanguineous marriage had LCA type 4 with a novel homozygous missense mutations of (c.862 C > T). Cortical cataracts, stage 4 keratoconus, retinal black spots, and lack of glaucoma along with mutations of (c.862 C > T) can be present in LCA type 4.
Leber 先天性黑矇（LCA）是一种早发性视网膜营养不良的亚组，表现为早期或先天性视力丧失、游动性眼球震颤、黑矇性瞳孔、眼指征、光相干断层扫描显示视网膜厚度变薄和视网膜电图异常。如今，约 25 种基因突变可导致 80%的 LCA 患者患病。引起 LCA 型 4 的突变约占该组的 5-10%。3 名患有视力丧失、眼球震颤、白内障、4 期圆锥角膜、视网膜异常（黑斑）、无青光眼和来自近亲结婚的发育不良特征的受影响兄弟姐妹患有 LCA 型 4，具有新型纯合错义突变（c.862C>T）。皮质性白内障、4 期圆锥角膜、视网膜黑斑和无青光眼以及（c.862C>T）突变都可能存在于 LCA 型 4 中。
