Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation

Ophthalmic Genet. 2015 Mar;36(1):70-4. doi: 10.3109/13816810.2013.824003. Epub 2013 Aug 19.

Abstract

We report a male patient with retinitis pigmentosa, growth failure, long eyelashes, and sparse hair, which are typical signs of Oliver-McFarlane syndrome. The patient was born to healthy parents and developed night blindness at 2 years of age. Retinitis pigmentosa was diagnosed when he was 5 years old. To date, only 11 cases of Oliver-McFarlane syndrome have been documented, with the present case being the 12th overall and the first in China. Thus, the existence of typical Oliver-McFarlane syndrome in Asians was verified.

Keywords: Hair anomaly; Oliver-McFarlane syndrome; retinitis pigmentosa; short stature; trichomegaly.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Blepharoptosis / diagnosis*
  • Blepharoptosis / genetics
  • Child, Preschool
  • China / epidemiology
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Dwarfism / diagnosis*
  • Dwarfism / genetics
  • Eyebrows / abnormalities
  • Eyelashes / abnormalities
  • Humans
  • Hypertrichosis / diagnosis*
  • Hypertrichosis / genetics
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Male
  • Night Blindness
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics

Supplementary concepts

  • Oliver-McFarlane syndrome