Isolated foveal hypoplasia: report of a new case and detailed genetic investigation.
To carry out an ophthalmological and detailed genetic investigation on a 7-year-old boy with isolated foveal hypoplasia. A full ophthalmological examination and optical coherence tomography (OCT) was performed. We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be associated with aniridia. His eye examination was normal with no iris transillumination. A fundus examination, however, showed classic signs of foveal hypoplasia. A molecular genetic investigation showed no mutation(s) in all genes screened and no chromosomal deletion(s) and/or duplication(s) were detected. We report a case of isolated foveal hypoplasia where the underlying genetic cause could not be established. We could not rule out other genetic or epigenetic factors contributing to the pathogenesis of isolated foveal hypoplasia.
AlHokama Eye Specialist Center, Riyadh, Saudi Arabia.
Ahmed A
AA
Al-Saleh
Ali
A
Hellani
Khaled K
KK
Abu-Amero
D002648:Child; D002869:Chromosome Aberrations; D005136:Eye Proteins / Q000235:genetics*; D005584:Fovea Centralis / Q000473:pathology*; D005654:Fundus Oculi; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology*; D041623:Tomography, Optical Coherence
D005136:Eye Proteins; C095276:GPR143 protein, human; D018398:Homeodomain Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins
Genes Cells. 1996 Jan;1(1):11-5
9078363
Cell. 1991 Dec 20;67(6):1059-74
1684738
Indian J Ophthalmol. 2005 Dec;53(4):276-7
16333181
Br J Ophthalmol. 1987 Dec;71(12):926-30
3427001
Retina. 2008 Nov-Dec;28(10):1552-3
18997616
Nat Genet. 1996 Jun;13(2):141-2
8640214
Arch Ophthalmol. 1976 Jan;94(1):48-50
1247409
Int Ophthalmol. 2009 Aug;29(4):271-4
18401554