Hereditary Blindness Among Pingelapese People of Eastern Caroline Islands

Brody, JacobA.; Hussels, Irena; Brink, Edward; Torres, Jose (June 1970). "Hereditary Blindness Among Pingelapese People of Eastern Caroline Islands". Lancet. 295 (7659): 1253–1257. doi:10.1016/S0140-6736(70)91740-X. ISSN 0140-6736.

Abstract: Congenital blindness occurs in 4-10% of the Pingelap people of the Eastern Caroline Islands. The clinical picture consists in horizontal pendular nystagmus, photophobia, amaurosis, colour-blindness, and gradually developing cataracts. The mode of inheritance appears to be autosomal recessive. The disease is detectable within the first two months of life and the clinical course varies little from case to case. A subpopulation was screened systematically for ophthalmic disease. No heterozygous expression of this disease was detected with the relatively insensitive field equipment, but in several instances evidence suggesting incomplete expressions was found. There was some indication that an environmental factor may play a role in precipitating this disease in genetically susceptible infants, since, in the one village studied in depth, there was a reduced prevalence among children aged 0-4 years. The high frequency of this noxious gene is probably related to the fact that a destructive typhoon in about 1780 reduced the male population to approximately nine and subsequently the islanders have remained in almost complete isolation. The disease is apparently a form of achromatopsia or a tapetoretinal degeneration with primary involvement of the cones.

Extra details:

QID: Q34203925
PMID: https://pubmed.ncbi.nlm.nih.gov/4192495
MAG: 1993150493
OpenAlex: W1993150493
CorpusID: 37636846