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NR 1-3/2009
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Choroba Besta – opis
przypadku rodzinnego występowania
Best’s disease – family case
report
Sława Kwiecień, Magdalena Ulińska, Robert
Sulak, Jerzy Szaflik
Katedra i Klinika Okulistyki II Wydziału Lekarskiego
Warszawskiego Uniwersytetu Medycznego
Kierownik: prof. dr hab. n. med. Jerzy Szaflik |
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| Summary: |
Friedrich Best described
in 1905 for the first time a genetic disease which is
subject to autosomal dominant inheritance. Yellow
material is assembled under pigment epithelium,
especially in the macula. Afterwards pigment epithelium
and choroid become involved in the process and visual
acuity decreases. In the last phase the fibrotic scar
appears in the macula with deterioration of visual
acuity. In some late cases choroidal neovascularization
develops too.
We present a two-generation-family which suffers from
Best’s disease. Our patients: mother, her daughter and
her son demonstrate changes in different phases of
development. In mother’s case we found fibrotic scar and
atrophy of pigment epithelium, which is typical of the
late phase of the disease. Daughter complained of
decrease in visual acuity, the subretinal
neovascularisation was found in the macula and
photodynamic therapy was performed. Visual acuity
improved from 0.5 to 0.8 and has been stable for 11
months. Son did not report any symptoms. Some yellow
material was found under the macula in both eyes without
decrease of visual acuity.
Described case shows importance of the whole family
members’ examination in case of Best’s disease. Early
diagnosis of this serious disease makes possibility of
proper treatment. |
| Słowa kluczowe: |
lipofuscyna, zanik
naczyniówki, metamorfopsje. |
| Key words: |
lipofuscin, choroidal
atrophy, metamorphopsia. |
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