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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is characterized by the presence of myelinated retinal fibers. This typical feature is very helpful for the diagnosis but is not always observed in patients outside Quebec. Apart from phenotype variations, misinterpretation of the funduscopy may explain discrepancies and misdiagnosis. We analyze the modification of retinal fibers layer using the funduscopy and the optical coherence tomography (OCT) in two French patients having spinocerebellar ataxia associated with a spastic paraparesia with genetically confirmed ARSACS. In both patients the funduscopy showed a swollen and striated aspect of peripapillar fibers along the retinal vessels and in the intermaculopapillar region. The OCT displayed an important thickening of the optical fibers layer mainly in upper and lower temporal area without attenuation of deep layers, as well as a filling in of the foveolar depression with thickening of the ganglion cell layer normally absent from the foveola. The aspect of funduscopy and OCT in our patients does not correspond to the classical description of myelin fibers encountered in 0.3% to 1% of the population. Thus, ARSACS might be underdiagnosed because of an erroneous interpretation of funduscopy. When considering the diagnosis of ARSACS, the neurologist should ask the ophthalmologist to search for thickening of peripapillar retinal fibers by both funduscopy and OCT rather than myelinated retinal fibers. This ophthalmological consideration has avoided misdiagnosis and led to the description of new mutations in our cases.

Background: A study of the characteristics and the results obtained in 99 consecutive eyes operated on for rhegmatogenous retinal detachment associated with aphakia or pseudophakia in order to find the predictive factors of poor anatomical and functional results. Methods: The authors retrospectively reviewed the files of 99 consecutive cases of aphakic and pseudophakic retinal detachment operated on by the same surgeon between January 1992 through July 1993 with a minimum follow-up of 6 months. Multivariate and chi square analysis were carried out. Results: Of the pseudophakic eyes, 25 had an anterior chamber lens and 48 had a posterior chamber lens. The posterior capsule was disrupted using a Yag laser in 58% of those with an posterior chamber lens but only 14% of them developed detachment within 6 months. The rate of vitreous loss was 27% with 5% in case of intracapsnlar extraction, 31% in case of extracapsular extraction and 54% in case of phacoemulsification. PVR was present in 30% of the patients and 51% of detachments occurred more than 24 months as a mean after cataract surgery. The overall anatomic reattachment rate was 88% with no significant difference between the aphakic and the pseudophakic patients, either with an anterior chamber of posterior chamber lens. Visual results were significantly worse in the anterior chamber lens group and in the aphakic eyes (P < 0.02). Negative prognostic indicators for reattachment included poor preoperative vision, extension of the retinal detachment to the macula (P < 0.05) and grades B, C or D proliferative vitreoretinopathy (P < 0.01). In addition to the above factors, eyes with vitreous loss, anterior chamber lens, aphakia and a larger extent of the retinal detachment had a poor visual outcome. Conclusion: Most aphakic or pseudophakic retinal detachment can now be reattached with either scleral or vitreo retinal surgery. The main difficulties are the localisation of the breaks and the treatment of PVR. Indirect ophthalmoscopy associated with vitrectomy does well in cases of an opacified posterior capsule. In cases of severe PVR long term internal tamponade either with C3F8 or silicone oil improves anatomical results but the functional results remain inferior.

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