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Abstract
Abstract
Laurence-Moon-Bardet-Biedl-Syndrome
Karakoulakis C., Papadakou M., Koufakis D., Paggeas D., Rizos S., Dimera B.
Eye Department Larisa General Hospital, Larisa/GR
Purpose: The aim of this study is to determine the full clinical expression of Laurence Moon Bardet Biedl Syndrome and to distinguish it from other factors causing retinal degeneration.
Method: 17-year-old male patient with no family history of Laurence Moon Bardet Biedl Syndrome.
Results: Growth retardation, hypogonadism, adiposity, mental retardation, syndaktily, hexadaktily, glomerulonephritis. Normal anterior eyeparties. Osseous pigmentepithel degeneration on both posterior poles. Middle periphery with circular preretinal membrane. Poor coloured obliquely enternd optic nerve. Photopish - scotopish pathological ERG.
Conclusions: Laurence Moon Bardet Biedl Syndrome is determined by retinopathy pigmentosa, hypogonadism, adiposity, polydaktily and mental retardation. A likely absence of retinopathy pigmentosa in the first stage of Laurence Moon Bardet Biedl Syndrome has been described. RP can be expressed either on one side or longitudinally in the vessels bow, or as vitreoretinal degeneration. Simultaneous atrophy of the optic nerve is possible. Low gonadotropin concentration in plasma leads to hypogonadism. Adiposity is exhibited mostly in the extremities. Mental retardation is in all cases well expressed. Laurence Moon Bardet Biedl Syndrome can be also associated with anomalies of the kidneys, teeth and cardiovascular system, as well as dwarfism and auditory disabilities. An autoso