[Hereditary foveal hypoplasia - clinical differentiation].
BACKGROUND
In a family cataract, esotropia and foveal hypoplasia is dominantly transmitted.


METHODS
Besides the physical examination visual evoked potentials and PAX6 mutation analysis were performed on five of six affected persons and on two who were not.


RESULTS
A man of the first generation, deceased before this study, was known to have low vision. His two daughters and their children and grandchildren suffer from cataract, esotropia and foveal hypoplasia. In two cases accompanied by aniridia and atypical iris coloboma respectively. The best visual acuity is 0.5. The VEPs taken of three of the affected people were normal. The PAX6 mutation analysis demonstrated a T to A translocation in the Intron 8 at the position + 2 (= IVS8 + 2T --> A).


CONCLUSIONS
1) This study confirms that foveal hypoplasia in the so-called isolated form have a similar origin as in aniridia namely PAX6 mutation and that it is a symptom in all cases while the iris anomaly may be variable. 2) In contrast to this foveal hypoplasia in albinism may occur variably in a family while the asymmetry of VEP is a constant finding. 3) Therefore the VEP alone is helpful to differentiate clinically wether a foveal hypoplasia belongs to the albino or to the aniridia group.
Schroeder
Hans Wolfgang
HW
Sehschule der Augenabteilung, Klinikum Nord, Hamburg, Germany.
Orth
Ulrike
U
Meyer-König
Eberhard
E
Gal
Andreas
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D016117:Albinism, Ocular / Q000175:diagnosis / Q000235:genetics; D015783:Aniridia / Q000175:diagnosis / Q000235:genetics; D002386:Cataract / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004948:Esotropia / Q000175:diagnosis / Q000235:genetics*; D005074:Evoked Potentials, Visual / Q000502:physiology; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005136:Eye Proteins; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities*; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009778:Occipital Lobe / Q000503:physiopathology; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins; D014178:Translocation, Genetic / Q000235:genetics; D015354:Vision, Low / Q000235:genetics
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins
Familiäre Foveahypoplasie - Klinische Einordnung.