Page 156 - A Magyar Szemorvostársaság 2023. évi kongresszusa - Tudományos program és előadáskivonatok

hypopigmented retina and foveal hypoplasia, with the lack of foveal reflex, beside jellyfish-like
vascular abnormality and a 2 disc diameter (DD) naevus in the left eye. These conditions were
recorded by funduscopic camera. OCT examination showed abnormal structure as hypoplasia
of the fovea, furthermore fundus autofluorescence (BAF) and multicolor images also were
taken. The visual field testing showed normal extends by kinetic perimetry, on the other hand
diffuse decrease in sensitivity was measured during central perimetry, and CFF test was within
normal range.

It is important to establish the degree of pigmentation of skin and hair among patients with
ocular albinism, and oculocutaneous albinism with haemorrhagic diathesis, which could be
prevented by prophylactic use of desmopressin, as it was used earlier by our patient with
HPS5. In addition to ophthalmological examinations, proper medical history and consultations,
collaborations across departments are of utmost importance for a high level patient care.

The importance of the presented case is due to its rarity, to the best of our knowledge this case
is unique in our country.