Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.
OBJECTIVE
To study a large family with X-linked progressive cone-rod dystrophy.


METHODS
There were 128 members in the family. Of these, 45 had an ophthalmological examination and 3 gave their permission to use the results of their recent ophthalmological examination. In addition to the usual eye examination, visual fields, colour vision, dark adaptation and electroretinogram (ERG) were examined.


RESULTS
Ten affected men aged 6 to 81 years were found in the family. The visual acuities varied from counting fingers (cf) 10 cm to 0.5 in the right eye (RE) and from cf 30 cm to 0.4 in the left eye (LE). The refraction was myopic in all affected members, varying from -1.5 to -24.0 D (RE) and from -2.0 to -20.25 D (LE). In visual functions, central scotomas and concentric constriction in the visual fields, red or red-green defects in colour vision, abnormal cone and rod dark adaptation and affected cone response in ERG were found. The 6 obligate carriers were aged 17 to 77 years. Their visual acuities varied from 0.05 (strabismic amblyopia) to 1.25(RE) and from 0.7 to 1.25 (LE), and refraction from +/-0 to +6.0 D (RE) and from -0.5 to +5.0 D (LE). Their visual fields and colour vision were normal. The non-affected men were aged 13 to 55 years, their visual acuity was normal in both eyes, and refraction varied from -5.0 to +1.5 D (RE) and from -5.5 to +1.75 (LE). The result of the eye examination was normal except in colour vision: two men were congenitally deuteranomalous. The women who were not obligate carriers were aged 10 to 77 years, their visual acuity was from 0.3 to 1.6 in both eyes, and refraction from -5.5 to +4.75 (RE) and from -5.25 to +4.0 (LE). Two women had one amblyopic eye. Otherwise the eye examination was normal.


CONCLUSIONS
The clinical diagnosis of X-linked cone dystrophy 1 (COD1) is based on progressive loss of visual acuity, moderate or high myopia, red colour vision defect and affected cone response or cone and rod response in ERG. The future identification of the COD1 gene will confirm the diagnosis of the disease and help in genetic counseling of the family.
Mäntyjärvi
M
M
Department of Ophthalmology, University of Kuopio,Department of Ophthalmology, University Hospital of Kuopio, Finland. maija.mantyjarvi@uku.fi
Nurmenniemi
P
P
Partanen
J
J
Myöhänen
T
T
Peippo
M
M
Alitalo
T
T
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D003118:Color Perception / Q000502:physiology; D003117:Color Vision Defects / Q000175:diagnosis; D003623:Dark Adaptation / Q000502:physiology; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D005500:Follow-Up Studies; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000175:diagnosis; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology; D014960:X Chromosome / Q000235:genetics*