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Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
  1. I A Glass,
  2. P Good,
  3. M P Coleman,
  4. P Fullwood,
  5. M G Giles,
  6. S Lindsay,
  7. A H Nemeth,
  8. K E Davies,
  9. H A Willshaw,
  10. A Fielder
  1. Department of Pediatrics, School of Medicine, University of California, San Francisco 94143.

    Abstract

    A five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone function were found to be abnormal in all affected males. No abnormality was detected in carrier females. Gene location studies showed X linked transmission of a gene that maps to proximal Xp11. The findings observed in this cohort are similar to those previously reported in both congenital stationary night blindness type 2 (CSNB2) and Aland Island eye disease (AIED). This study addresses whether CSNB2 and AIED are a single entity or whether the latter is a subset of the former.

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