Posters

Patient with suspicion of rare combination of genetic eye diseases: fish eye disease, nanophthalmus, and cornea plana

Poster Details

First Author: L.Frantlová CZECH REPUBLIC

Co Author(s):    R. Zugar   P. Seidler Stangova                 

Abstract Details

Purpose:

The aim of this report is to present a patient, 77 year old caucasian woman, with an atypical combination of genetic eye diseases. Apart from that she presents progression of cataract on both eyes. The effort was to concentrate on how these diseases influence her visual acuity, on their progression throughout her life and also on her overall health status – especially cholesterol levels and renal functions. We also checked her family history for any symptoms resembling hers.

Setting:

All of the examinations took place in the ophtalmology clinic Eye center Prague.

Methods:

The methods of examination used were anterior segment and fundus photography, slit lamp examination, anterior segment OCT, keratography and ultrasound – B scan and also A scan to measure the axial lenght, visual acuity and BCDVA.

Results:

Fish eye disease is also known as lecithin-cholesterol-acyltransferase (LCAT) deficiency. It is an autosomal recessive disorder of lipoprotein metabolism, presenting as corneal perilimbal opacifications. The prevalence of this disease is <1/1 000 000. In nanophthalmus, or simple microphthalmus, the entire eye is small with an axial length at least two standard deviations below the mean for age, but structurally normal. Cornea plana is an extremely rare bilateral condition in which cornea is flatter than normal, the radius of curvature is similar to that of the sclera. There is a corresponding reduction in refractive power resulting in high hypermetropia.

Conclusions:

Each of this conditions is very rare by itself, let alone all of them together. This patient is therefore an unique case, that we would like to present in this case report. Moreover we concentrate on possible risks, that may occur in such patient during the cataract surgery, which awaits this patient in the future in case of its further progression.

Financial Disclosure:

None