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Article

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 2010

McKibbin Martin, Ali Manir, Mohamed Moin D, Booth Adam P, Bishop Fiona, Pal Bishwanath, Springell Kelly, Raashid Yasmin, Jafri Hussain, Inglehearn Chris F

Abstract excerpt

OBJECTIVES: To report the genetic basis of Leber congenital amaurosis (LCA) in northern Pakistan and to describe the phenotype. METHODS: DNA from 14 families was analyzed using single-nucleotide polymorphism and microsatellite genotyping and direct sequencing to determine the genes and mutations involved. The history and examination findings from 64 affected individuals were analyzed to show genotype-phenotype...

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Source

Identifiers

PMID: 20065226
DOI: 10.1001/archophthalmol.2010.309

Genes

AIPL1
LCA5
RPGRIP1
CRB1
RPE65
TULP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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