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CRB1-associated Retinal Dystrophies: Genetics, Clinical Characteristics and Natural History.

色素性视网膜炎 医学 队列 眼科 自然史研究 视力 自然史 回顾性队列研究 发病年龄 先证者 黄斑变性 儿科
作者
Malena Daich Varela,Michalis Georgiou,Yahya Alswaiti,Jamil Kabbani,Kaoru Fujinami,Yu Fujinami-Yokokawa,Shaheeni Khoda,Omar A. Mahroo,Anthony G Robson,Andrew R. Webster,Alaa AlTalbishi,Michel Michaelides
出处
期刊:American Journal of Ophthalmology [Elsevier BV]
标识
DOI:10.1016/j.ajo.2022.09.002
摘要

To analyse the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies.Multicenter international retrospective cohort study.Review of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with disease-causing CRB1 variants. Macular optical coherence tomography (OCT) parameters, visual function, fundus characteristics, and associations between variables were our main outcome measures.The mean age of the cohort at the first visit was 19.8 ± 16.1 (median 15) years of age, with a mean follow-up of 9.6 ± 10 years. Based on history, imaging, and clinical examination, 26 individuals were diagnosed with retinitis pigmentosa (RP, 26%), 54 with early-onset severe retinal dystrophy/Leber Congenital Amaurosis (EOSRD/LCA, 51%), and 24 with macular dystrophy (MD, 23%). Severe visual impairment was most frequent after 40 years of age for patients with RP and after 20 years of age for EOSRD/LCA. Longitudinal analysis revealed a significant difference between baseline and follow up best corrected visual acuity in the three sub-cohorts. Macular thickness decreased in most patients with EOSRD/LCA and MD, whereas the majority of patients with RP had increased perifoveal thickness.A subset of individuals with CRB1 variants present with mild, adult-onset RP. EOSRD/LCA phenotype was significantly associated with null variants, and 167_169 deletion was exclusively present in the MD cohort. The poor OCT lamination may have a degenerative component, as well as being congenital. Disease symmetry and reasonable window for intervention highlight CRB1 retinal dystrophies as a promising target for trials of novel therapeutics.
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