Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism

Autor:	Taylor V Dunn, Johnny Tran, Kai Wang, Alina V. Dumitrescu, Arlene V. Drack, Andrew Kemerley, Wanda Pfeifer, Sajag Bhattarai, Tod E Scheetz
Rok vydání:	2021
Předmět:	Male medicine.medical_specialty Visual acuity Genotype genetic structures Visual Acuity Physical examination Nystagmus Nystagmus Pathologic Antigens Neoplasm Ophthalmology Optic Nerve Diseases medicine Humans Genetic Testing Child Eye Proteins Genetics (clinical) Retrospective Studies Genetic testing OCA2 Membrane Glycoproteins medicine.diagnostic_test business.industry Membrane Proteins Membrane Transport Proteins medicine.disease Oculocutaneous albinism eye diseases Albinism Oculocutaneous Mutation Pediatrics Perinatology and Child Health Albinism Tyrosine Female medicine.symptom business Tomography Optical Coherence
Zdroj:	Ophthalmic Genetics. 42:539-552
ISSN:	1744-5094 1381-6810
DOI:	10.1080/13816810.2021.1933544
Popis:	Purpose: To correlate clinical features, molecular genetic findings, and visual acuity in a cohort of patients clinically diagnosed with oculocutaneous albinism.Design: Retrospective chart reviewMethods: 58 charts met the inclusion criteria. Clinical examination, ancillary testing, and molecular genetic diagnoses were extracted. A novel clinical albinism score (CAS) was developed.Results: A least one likely pathogenic mutation was found in 44/58 (75.9%) patients. Mutations in the OCA1 gene were the most common (52.3%), followed by OCA2 (34%), OCA4 (2.3%), OA1 (6.8%), and HPS (4.5%). Thirty-four percentage of patients had a complete genotype, 41% had one mutation found and 24% had negative genetic testing. CAS was statistically significantly higher in patients with complete genotype, versus patients with one or no mutations found (p < .01). Better visual acuity was associated with lower CAS and fewer disease-causing mutations (p < .01). Foveal defects and iris transillumination were associated with a higher number of mutations (p < .01). Patients with nystagmus or anomalous optic nerves had worse visual acuity than those who did not (p < .01, p < .05).Conclusions: Patients with a complete genotype were more likely to have higher CAS. Vision loss correlated with complete phenotype and higher CAS, the presence of nystagmus and anomalous optic nerves. Patients with features of albinism in whom an incomplete genotype was found had better vision than those with complete genotype, suggesting a mild occult mutation or modifier variant. Genetic diagnosis is vital for complete diagnosis, counseling, and family planning.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f478b638a84564c49fae454be7264fc https://doi.org/10.1080/13816810.2021.1933544 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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