Abstract
Purpose: :
Laurence-Moon-Bardet-Biedl (LMBB) syndrome is an inherited condition characterized, in its complete form, by obesity, polydactylia, mental retardation, hypogenitalism and degenerative retinopathy. Additional features are kidney abnormalities, dental abnormalities and late ataxia. Retinal degeneration can be invariably demonstrated in each case. This study describes the long-term outcomes in our series of LMBB patients.
Methods: :
Retrospective case notes review of LMBB patients followed at the center for Inherited Degenerative Retinal Disorders, University of Rome "La Sapienza" lasting more than 5 years. Snellen visual acuity, complete ophthalmological examination, Electroretinography (ERG) and visual field (Goldmann kinetic perimetry under low photopic conditions) were the cardinal data collected. According to BCVA at first visit we divided eyes into 3 groups: VA more than 0,5(Gr.1), VA beetwen 0,5 and 0,1(Gr.2), VA less than 0,1(Gr.3).
Results: :
20 patients (40 eyes) were included with median duration of follow-up 9 years (7-18). 12 patients were male and mean age at first visit of our department was 19 years (3-40). In addiction to retinopathy 16 patients presented obesity, 8 polydactyly, 6 mental retardation, 4 hypogenitalism, 4 dental abnormalities and 3 late ataxia.Group 1 (N=17) mean BCVA at first visit was 0,78 after 5 years was 0,71 and after 10 years 0,61; Group 2 (N=12) mean BCVA at first visit was 0,31 after 5 years was 0,16 and after 10 years was 0,08; Group 3 (N=11) mean BCVA at first visit was 0,041 after 5 years was 0,035 and after 10 years was 0,001.At first visit ERG responses were recordable in 16 eyes and non recordable in 24 eyes, after 5 years were recordable in 6 eyes(3 patients); all patients followed for more than 10 years have not recordable ERG, of them 2 (4 eyes) had recordable responses at first visit. Visual field examination showed progressive reduction of the total area, and after 5 years all patients showed central area less than 15 degree determined with the III4e targets. All patients received vitamin A treatment, and 6 were submitted to hyperbaric oxygen therapy.
Conclusions: :
VA reduction is slower in group 1 compared to VA reduction in group 2 and 3. The main cause of visual loss was optic nerve atrophy which was present in 12 eyes at different stages, cystoid macular oedema was present in 8 eyes at different stages. ERG responses after 5 years follow-up were recordable in 15% of eyes submitted to examination.
Keywords: refraction • retinitis • clinical (human) or epidemiologic studies: biostatistics/epidemiology methodology