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Mariana Matioli da Palma, Fabiana Louise Motta, Mariana V Salles, Juliana Maria Ferraz Sallum; Syndromic Inherited Retinal Dystrophies. Invest. Ophthalmol. Vis. Sci. 2020;61(7):940.
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© ARVO (1962-2015); The Authors (2016-present)
To assess the ophthalmological syndromes in patients who have inherited retinal dystrophies (IRD). IRD is a group of ocular diseases marked by high clinical and genetic heterogeneity affecting about 1 in every 2,000 to 3,000 individuals. IRD is a group of rare diseases. A rare disease is a health condition that affects up to 65 people per 100,000 individuals or 1.3 per 2,000 people. It is estimated that in Brazil, with a population of approximately 210 million people, there are at least 70,000 Brazilians with IRD. They may or may not be associated with syndromic conditions, with alterations in several organs besides the ocular and may even be classified as ultra-rare (less than or equal to 1: 50,000 inhabitants).
A retrospective study at the Federal University of São Paulo - UNIFESP and the Institute of Ocular Genetics - IGO from 1998 to 2018. From a database of 1,246 IRD patients, 559 underdone different commercial genetic tests. From this total, 400 IRD patients had positive genetic tests. A retrospective evaluation of medical records found 52 syndromic inherited retinal diseases. The inherited ophthalmological syndromes found were analyzed.
Ophthalmologic syndromes accounted for 13% of all patients with IRD and conclusive genetic test (52 patients out of 400). Genotyping and ophthalmic syndromes found include: PRPS1: Arts Syndrome (1 patient); CNNM4: Jalili Syndrome (1); WFS1: Wolfram Syndrome (1); TUBGCP4: Microcephaly and chorioretinopathy type 3 (1); ABHD12: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract - PHARC (1); ALMS1: Alström Syndrome (2); NDP: Norrie's Disease (2); IQCB1 and NPHP4: Senior-Loken (2); CLN3: Ceroid neuronal lipofuscinosis (8); BBS1: Bardet-Biedl (6); AHI1, CEP290, and INPPP5E: Joubert Syndrome (7) and ABDH12, CLRN1, MYO7A, and USH2A: Usher Syndrome (20).
Most of these syndromes are so rare that they can be underdiagnosed. The majority of the syndromes fall into the classification of ultra-rare diseases. It is essential to study inherited ophthalmological syndromes, as many of them are debilitating. The correct early diagnosis, combined with the molecular test can provide the best interdisciplinary follow-up.
This is a 2020 ARVO Annual Meeting abstract.
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