| Autor: |
Bende, Purva, Natarajan, Krupa, Marudhamuthu, Thennarasu, Madhavan, Jagadeesan |
| Předmět: |
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| Zdroj: |
Journal of Pediatric Ophthalmology & Strabismus; Jan2013, Vol. 50 Issue 1, p34-36, 3p |
| Abstrakt: |
Purpose: To predict the progression to legal blindness in patients with isolated inherited retinitis pigmentosa. Methods: This retrospective study evaluated patients with isolated inherited retinitis pigmentosa for age at onset, duration of the disease, and best-corrected visual acuity in an Asian Indian cohort. The Mann-Whitney U test was used to analyze the variables. Results: Of 134 patients evaluated, 72% were autosomal recessive, 17% were autosomal dominant, and 11% were X-linked recessive pedigrees. Median age at onset was 8 years for X-linked recessive, 11 years for autosomal recessive, and 21 years for autosomal dominant disease, which was statistically significant. The refractive error due to axial myopia was significantly high in X-linked recessive (-3.50 diopter sphere) compared to autosomal recessive (-1 diopter sphere) and autosomal dominant (0.00 diopter sphere) cases (P < .000). Legal blindness occurred in 50% of X-linked recessive and autosomal recessive cases but in only 32% of autosomal dominant cases. Conclusion: Identifying the gene defects involved in this cohort will help understand the phenotype variability. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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