Acta clinica Croatica, Vol. 41 No. 1, 2002.
Stručni rad
Primary Tapetoretinal Dystrophies as the Cause of Blindness and Impaired Vision in the Republic Of Croatia
Katia Novak-Lauš
Suzana Kukulj
Mia Zorić-Geber
Ojdana Bastaić
Sažetak
According to records of the Croatian Association of the Blind and Impaired Vision Persons, 5,360 blind and impaired vision persons were registered in 2001, with an incidence of 1.3‰. The records contain familial and personal data, data on the underlying disease and ophthalmologic examination findings, including visual acuity of both eyes, fundus examination, biomicroscopic examination and field of vision according to Goldman. Adaptometry, electroretinogram and color perception were rarely performed. Patients were classified according to residual visual acuity, which was converted into percentage of residual vision. During the study, tapetoretinal dystrophies were detected in 328 (6.11%) subjects, 177 (53.9%) male and 151 (46.1%) female. In the Republic of Croatia, tapetoretinal dystrophies as the cause of blindness and impaired vision were recorded in 0.007% (1:14,285) of cases. Over the last 30 years, the number of registered blind and impaired vision persons with this disease increased by 4.3% in large cities in Croatia, whereas its distribution in other areas remained uniform. Clinical manifestations of the disease occurred under the age of 40 in 84.4%, under the age of 50 in 95.2%, and after birth or under the age of 10 in 11.6% of subjects, pointing to the malignancy of the gene for dystrophy of retina pigmentosa. Of all blind subjects, 15.3% belonged to this group. During the study, 40 heredograms were completed, which confirmed the disease to be inherited as an autosomal recessive trait in 40% and autosomal dominant trait in 22.5%, whereas a fresh mutation was probably involved in 37.0% of cases.
Ključne riječi
Blindness; impaired vision; retinitis pigmentosa
Hrčak ID:
14706
URI
Datum izdavanja:
1.3.2002.
Posjeta: 2.080 *