Kjellin's syndrome is a rare autosomal recessive hereditary neuro-ophthalmologic syndrome. The diagnosis of Kjellin's syndrome is based on the retinal appearance in a patient with spastic paraplegia, learning difficulties, amyotrophy and thin corpus callosum. We present the case of a 42-years-old man without visual symptoms, referred to study from the Neurology Service due to a degenerative condition. On ophthalmologic examination is found a multifocal pattern dystrophy simulating fundus flavimaculatus and a delay in the visual evoked potential responses. The performed tests are reviewed and a genetic analysis for subtypes 11 and 15 of hereditary spastic paraplegia are requested. These subtypes are associated with macular changes. A pathogenic variant in the SPG 11 gene is identified, which explains the patient's clinical manifestations. Ophthalmological findings were key in the diagnosis of this rare syndrome.

Optical coherence tomography angiography (OCTA) is a useful method for determining choroidal neovascular membranes (CNVM) in different subtypes of pattern dystrophy. We aimed to evaluate the optical coherence tomography (OCT) findings in different subtypes of pattern dystrophy and to detect CNVM not detectable by conventional method using OCTA. Of 55 eyes included in this retrospective, cross-sectional study, adult onset vitelliform macular dystrophy was present in 42 eyes (32 eyes vitelliform stage-10 eyes vitelliruptive stage), butterfly-shaped pattern dystrophy in 8 eyes, and multifocal pattern dystrophy simulating fundus flavimaculatus in 5 eyes. Fluorescein angiography (FA), fundus autofluorescence, OCT and OCTA imaging were performed in all cases. The study included 55 eyes of 29 patients, of which 21 were female and 8 were male. On OCT, 25 eyes had hyperreflective dots, 14 eyes had a disruption in the ellipsoid zone (EZ), and 6 eyes had atrophy in the outer retinal layers, and these findings were detected in all subtypes. Findings consistent with CNVM were detected in 1 eye using FA, 3 eyes using OCT and 5 eyes in OCTA. In this study, we demonstrated that in different subtypes of pattern dystrophies OCT findings such as hyperreflective dots, disruption in the EZ, atrophy in the outer retinal layers and CNVM can be seen, and that a quiescent CNVM lesion, which cannot be detected by conventional methods, can be detected by OCTA, a new imaging method.

Multifocal pattern dystrophy simulating fundus flavimaculatus (MPDSFF) is a clinical entity characterized by several clinicopathological, angiographic, tomographic, and electrophysiological findings. A 58-year-old caucasian female patient presented with bilateral floaters and metamorphopsia. Best-corrected visual acuity (VA) was 6/6 in both eyes and intraocular pressure was 14 and 15 mm Hg, respectively. Fundus examination, optical coherence tomography (OCT), autofluoresence (AF), fluorescein angiography (FA) and pattern Electroretinogram were employed for the diagnosis of this case. Clinical and imaging findings were consistent with MPDSFF. Noticeable progression was observed in OCT scans 6 months following the baseline visit, while no significant changes were observed over the following 12 months. Prognosis of VA in MPDSFF patients may remain relatively good even in the presence of considerable anatomic changes. Disease progression may be slow and significant reduction in VA may present only secondary to a choroidal neovascular membrane. Patient follow-up should include OCT scans, PERG, and AF in addition to VA and dilated fundus examination every 6-12 months. As relevant literature is limited and no effective treatment modality has been employed for this clinical entity, the identification of the cellular death pathway in pattern dystrophies may lead to an applicable management approach.

Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTGGGCTCCTCATTTGG, in a patient with adult-onset vitelliform macular dystrophy (AVMD). One family with the p.Arg46Ter mutation presented with the already described AVMD phenotype, but another family presented with the same mutation and two heterozygous pathogenic mutations (p.Leu2027Phe and p.Gly1977Ser) in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) gene that cause extensive chorioretinal atrophy (ECA), which could be a blended phenotype. The p.Lys154del PRPH2 gene mutation associated with the p.Arg2030Glu mutation in the ABCA4 gene was found in a patient with multifocal pattern dystrophy simulating fundus flavimaculatus (PDsFF), for whom we considered ABCA4 as a possible modifying gene. The mutation p.Gly167Ser was already known to cause pattern dystrophy, but we also found ECA, PDsFF, and autosomal-dominant retinitis pigmentosa (ADRP) as possible phenotypes. Finally, we identified the mutation p.Arg195Leu in a large family with common ancestry, which previously was described to cause central areolar choroidal dystrophy (CACD), but we also found ADRP and observed that it caused ECA more frequently than CACD in this family.