Progressive Loss Of Visual Acuity Research Articles

Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.

Spastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy. Clinical, functional and multimodal retinal imaging data were collected. Genetic testing was performed by Whole Exome Sequencing (WES). A 52-year-old female patient with SPG of unknown origin was referred for a progressive visual acuity loss. Multimodal fundus imaging revealed a peculiar macular dystrophy. Given the specific association of macular dystrophy and SPG, a Kjellin syndrome was suspected and genetic testing performed. WES revealed biallelic pathogenic variants in SPG11, co-segregating with disease in the family. Careful ophthalmological examination prompted the diagnosis and guided molecular testing. This case underlines the importance of a neuro-ophthalmologic assessment in patients with SPG.

PITUITARY STONE ADENOMA ASSOCIATED WITH SEVERE HYPERPROLACTINEMIA CASE REPORT

A 35-year-old patient consulting for erectile dysfunction, with a progressive visual acuity loss. Biological assessment revealed hyperprolactinemia at 4315 ng/ml and low testosteronemia at 6.8 nmol/l. Skull X-ray showed an enlarged sellaturcica with voluminous intra- and suprasellar calcifications. A cranial CT scan revealed an intra- and suprasellar calcified mass. Transphenoidal surgery was performed. The tumor was partially removed and the piece was made of calcified grayish granular tissue. Histological examination showed adenomatous cells with large granular calcification lesions. Immunohistochemistry confirmed prolactin adenoma. Cabergoline treatment was effective on the calcified tissue remaining after surgery.

QUALITY OF LIFE PERSPECTIVE CORRELATION IN CHILDREN UNDERGOING AMBLYOPIA OCCLUSION THERAPY AND THEIR PARENTS AS PROXY

Abstract
 Introduction & Objectives : One of the main therapies used to treat amblyopia in the dominant eye is occlusion therapy. When used on the dominant eye during activities, eye patches can lead to quality of life issues include visual, cosmetic, and psychosocial disorders. To improve visual acuity in the suppressed eye and stop a progressive loss of visual acuity, therapy must be followed. An important factor affecting a child's compliance with occlusion therapy is parental support. Parental negativity affects children's level of support, and as a result, a decreased compliance. This research aimed to determine the relationship between quality of life and the perspectives of parents and children receiving occlusion therapy.
 Methods : This is a correlation study with a cross-sectional design. Fifty-one subjects were addressed in the amblyopia children's group and fifty-one subjects in the parents’ group. Every participant was directly interviewed. Correlation analysis was used to assess the relationship between the results of interviews with children and their parents.
 Results : There is a decrease in the quality of life in children undergoing therapy, both from the perspective of the child and their parents. The decline in the quality of life that occurs in children is not as low as parents think. The results of the questionnaires for the children and their parents in total demonstrated a significant correlation (p = 0.0001) and a moderately positive correlation (R = 0.598).
 Conclusion : There is a positive correlation between children and parents in assessing the quality of life due to occlusion therapy.

Machine Learning Techniques used for Recognizing the Diabetic Retinopathy: A Survey

Diabetic Retinopathy (DR) is one of the major causes of blindness. DR mutilates the retinal blood vessels of a patient having diabetes. The DR has two major types: First one is Non- Proliferative Diabetic Retinopathy (NPDR) and second is Proliferative Diabetic Retinopathy (PDR). PDR is the advanced stage of DR which leads to neo vascularization, it is expected that the number of DR patients is to increase from 382 million to 592 million by 2028. In the early stages of the DR the patients were asymptomatic but in advanced stages, it leads to floaters, blurred vision, distortions, and progressive visual acuity loss. It is difficult but utmost important to detect the DR in early stages to avoid the worse effect of latter stages. The colour fundus images were used for the diagnosis of DR, the manual analysis could only be done by highly trained domain experts but it is bit expensive in terms of time and cost. Hence, it is important to use computer vision methods to automatically analyse the fundus images of Retina and assist the physicians/radiologists. The computer vision-based methods are divided into hand-on engineering and end-to-end learning. The hand-on engineering methods extract features using traditional approaches such as HoG, SIFT, LBP, Gabor filters, which failed to encode the variations in scale, rotation, and illumination. The end-to-end leaning automatically learns the hidden rich features and thus performs better classification.

Natural History and Surgical Outcomes of Lamellar Macular Holes

To assess the natural history and surgical outcomes of lamellar macular holes (LMH). Retrospective and consecutive case series. Patients with LMH from multiple tertiary care centers. Clinical charts and optical coherence tomography scans were reviewed. The visual acuity (VA) changes and the occurrence rate of full-thickness macular hole (FTMH) were studied in both groups. Within the operated group, factors associated with 6-month VA and development of (FTMH) were explored. 178 eyes were included, of which 89 were monitored and 89 underwent surgery. In the observation group, the mean VA decreased from 0.25 ± 0.18 to 0.28 ± 0.18 logMAR (p = 0.13), with 14 eyes (15.7%) that lost 0.2 logMAR VA or more, after 45.7 ± 33.3 months. Nine eyes (10.1%) spontaneously developed a FTMH. In the operated group, the mean VA increased from 0.47 ± 0.23 to 0.35 ± 0.25 logMAR at 6 months (p < 0.001) and 0.36 ± 0.28 logMAR (p = 0.001) after 24.1 ± 30.1 months. By multivariate analysis, better baseline VA (p < 0.001), the presence of an epiretinal membrane (p = 0.03), and the peeling of the ILM (p = 0.02), with a greater effect of ILM perihole sparing, were associated with a greater 6-month VA. Peri-hole ERP sparing was associated with a better postoperative VA by univariate analysis (p = 0.03), but this was not significant by multivariate analysis. Eight eyes (9.0%) developed a postoperative FTMH. Using cox proportional hazard ratio, pseudophakia at baseline (HR = 0.06 [0.00-0.75], p = 0.03) and peeling of the ILM (HR = 0.05 [0.01-0.39], p = 0.004) were protective factors, while ellipsoid zone disruption (HR = 10.5 [1.04-105], p = 0.05) was associated with an increased risk of FTMH. Observed eyes with LMH experience, on average, progressive VA loss. Patients with LMH and altered vision may benefit from surgery. Internal limiting membrane peeling, with perihole ILM sparing, represent a crucial step of the surgery associated with a greater VA and a lower risk of postoperative FTMH.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

To characterize the retinal phenotype in RNU4ATAC-associated Roifman syndrome. Ten patients (including 8 males) with molecularly confirmed Roifman syndrome underwent detailed ophthalmologic evaluation including fundus imaging, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), and electroretinography (ERG). Six patients had follow-up eye exams. All patients also underwent comprehensive examination for features of extra-retinal Roifman syndrome. All patients had biallelic RNU4ATAC variants. Nyctalopia was common (7/10). Visual acuity at presentation ranged from 20/20 to 20/200 (Age Range: 5-41 years). Retinal exam revealed features of generalized retinopathy with mid-peripheral pigment epithelial changes. A para or peri-foveal ring of hyper-autofluorescence was the commonest FAF abnormality noted (6/8). The SD-OCT demonstrated relative preservation of the foveal ellipsoid zone in six cases; associated features included cystoid changes (5/10) and posterior staphyloma (3/10). The ERG was abnormal in all patients; nine showed generalized rod-cone dystrophy, whilst one patient with sectoral retinal involvement only had isolated rod dystrophy (20 years old). On follow-up examination (Mean duration: 8.16 years), progressive loss of visual acuity (2/6), mid-peripheral retinal atrophy (3/6) or shortening of ellipsoid zone width (1/6) were observed. This study has characterized the retinal phenotype in RNU4ATAC-associated Roifman syndrome. Retinal involvement is universal, early-onset, and overall, the retinal and FAF features are consistent with rod-cone degeneration that is slowly progressive over time. The sub-foveal retinal ultrastructure is relatively preserved in majority of patients. Phenotypic variability independent of age exists, and more study of allelic- and sex-based determinants of disease severity are necessary.

MFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model.

Charcot-Marie-Tooth disease type 2A (CMT2A), the most common inherited peripheral axonal neuropathy, is associated with more than 100 dominant mutations, including R94Q as the most abundant mutation in the Mitofusin2 (MFN2) gene. CMT2A is characterized by progressive motor and sensory loss, color-vision defects, and progressive loss of visual acuity. We used a well-established transgenic mouse model of CMT2A with R94Q mutation on MFN2 gene (MFN2 R94Q ) to investigate the functional and morphological changes in retina. We documented extensive vision loss due to photoreceptor degeneration, retinal ganglion cell and their axonal loss, retinal secondary neuronal and synaptic alternation, and Müller cell gliosis in the retina of MFN2 R94Q mice. Imbalanced MFN1/MFN2 ratio and dysregulated mitochondrial fusion/fission result in retinal degeneration via P62/LC3B-mediated mitophagy/autophagy in MFN2 R94Q mice. Finally, transgenic MFN1 augmentation (MFN2 R94Q :MFN1) rescued vision and retinal morphology to wild-type level via restoring homeostasis in mitochondrial MFN1/MFN2 ratio, fusion/fission cycle, and PINK1-dependent, Parkin-independent mitophagy.

Eight years follow‐up of two choroideremia patients with a new mutation of the choroideremia gene

AbstractPurpose: Choroideremia (CHM) is an inherited retinal dystrophy with an X‐linked inherited patron. It presents changes in the outer retina and choroid. CHM has a typical fundus appearance with preservation of the central retina, that progresses over the years. Fundus autofluorescence (FAF) shows the changes in the pigment distribution not only in patients but also in carriers. We present an 8‐year follow‐up of two boys affected by the disease.Methods: We studied a family with two cousins referring visual loss and nyctalopia and presented clinical findings of CHM at 11 and 10 years old. Their mothers referred that their deceased father had an important loss of visual acuity (VA) and that he had been diagnosed of Retinitis Pigmentosa. They were diagnosed of CHM with an undescribed mutation in the CHM gene c.1083_1084dupT (p.L362Sfs*56) at the Xp21.2 location. We present the patients and the carriers follow‐up.Results: During 8 years one of the patients had a progressive loss of VA. He presented a high myopic refraction and retinal changes that could be related to both conditions. His macular function decreased during the years with loss of retinal sensitivity evaluated by MAIA microperimetry, with Multifocal ERG showing a marked diminution on the central peak. His cousin has not presented important changes during the follow‐up time, preserving macular sensitivity and central visual field. Both mothers show a different AF pattern, with one geographic pattern and another sparse mottled on periphery. Carriers have not changed during these 8 years, neither in their retinal function nor in the anatomical findings.Conclusions: Evolution in CHM disease could differ in patients affected by the same mutation. Myopic defect may increase the retinal damage, with a more aggressive evolution.

Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant

Pathogenic variants in FAM161A are the most common cause of retinitis pigmentosa in Israel. Two founder pathogenic variants explain the vast majority of cases of Jewish origin, 1 being a nonsense variant (p.Arg523∗). The aim of this study was to generate a knock-in (KI) mouse model harboring the corresponding p.Arg512∗ pathogenic variant and characterize the course of retinal disease. Experimental study of a mouse animal model. A total of 106 Fam161a knock-in mice and 29 wild-type mice with C57BL/6J background particiapted in this study. Homozygous Fam161a p.Arg512∗ KI mice were generated by Cyagen Biosciences. Visual acuity (VA) was evaluated using optomotor tracking response and retinal function was assessed by electroretinography (ERG). Retinal structure was examined invivo using OCT and fundus autofluorescence imaging. Retinal morphometry was evaluated by histologic and immunohistochemical (IHC) analyses. Visual and retinal function assessments, clinical imaging examinations, quantitative histology, and IHC studies of KI as compared with wild-type (WT) mice retinas. The KI model was generated by replacing 3 bp, resulting in p.Arg512∗. Homozygous KI mice that had progressive loss of VA and ERG responses until the age of 18 months, with no detectable response at 21 months. OCT showed complete loss of the outer nuclear layer at 21 months. Fundus autofluorescence imaging revealed progressive narrowing of blood vessels and formation of patchy hyper-autofluorescent and hypo-autofluorescent spots. Histologic analysis showed progressive loss of photoreceptor nuclei. Immunohistochemistry staining showed Fam161a expression mainly in photoreceptors cilia and the outer plexiform layer (OPL) in WT mice retinas, whereas faint expression was evident mainly in the cilia and OPL of KI mice. The Fam161a - p.Arg512∗ KI mouse model is characterized by widespread retinal degeneration with relatively slow progression. Surprisingly, disease onset is delayed and progression is slower compared with the previously reported knock-out model. The common human null mutation in the KI mouse model is potentially amenable for correction by translational read-through-inducing drugs and by gene augmentation therapy and RNA editing, and can serve to test these treatments as a first step toward possible application in patients. The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Histological findings of corneal tissue after failed phototherapeutic keratectomy in macular corneal dystrophy – a case report

BackgroundMacular corneal dystrophy is a rare inherited disease of the cornea leading to deposits mainly in the stroma. Affected patients suffer from progressive loss of visual acuity which should be treated with penetrating keratoplasty.This is the first case report describing the clinical and histopathological findings of corneal tissue after failed phototherapeutic keratectomy (PTK) in a patient with macular corneal dystrophy.Case presentationA 32-year-old man presented with visual impairment, blurred vision and increasing glare sensitivity in both eyes in 2014. All symptoms had existed for several years and had recently increased sharply. A corneal dystrophy was diagnosed and penetrating keratoplasty was recommended but the patient was hesitant to undergo surgery. In 2018, in contrast to current guidelines, a PTK was performed in both eyes in Turkey for unknown reasons. In May 2019, he presented again in our clinic. Best corrected visual acuity was markedly reduced in both eyes. Slit-lamp examination revealed multiple dense, poorly circumscribed grey-white patchy changes in the stroma accompanied by corneal opacity in both eyes. In February 2020, the patient decided to have penetrating keratoplasty performed at the University Eye Hospital in Tübingen. The explanted cornea was stained for acid mucopolysaccharides (AMP) and periodic acid–Schiff staining (PAS). The histopathological examination revealed destruction of Bowman’s layer and a subepithelial fibrosis band due to the PTK previously performed. The AMP staining demonstrated blue deposits typical of macular corneal dystrophy, mainly in the stroma but also in the endothelium. Interestingly, the acidic mucopolysaccharides were found increased in the PTK-induced subepithelial fibrosis band. The postoperative course after keratoplasty was favourable with a significant increase in visual acuity and a clear graft.ConclusionsThis report presents the first case of a histologically evident exacerbation of macular corneal dystrophy after PTK and emphasizes the relevance of thorough pre-interventional diagnosis and patient selection to consider other therapeutic approaches, such as penetrating keratoplasty.

Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant

PurposeOccult Macular Dystrophy (OMD) is an autosomal dominant inherited retinal dystrophy caused by mutations in the retinitis pigmentosa 1-like 1 (RP1L1) gene. The present study describes a novel RP1L1 variant, identified for the first time in two Italian sisters diagnosed with OMD, along with multimodal imaging features, including Optical Coherence Tomography (OCT) Angiography. MethodsWe performed multimodal imaging including spectral-domain OCT, blue light autofluorescence (BAF), infrared autofluorescence (IRAF), swept-source OCT Angiography (OCTA), full-field and multifocal electroretinography. Genetic analysis was performed using Next-Generation Sequencing. Pathogenic potential of nonsynonymous novel variants was scored with two in silico algorithms. ResultsProband 1 (P1) and proband 2 (P2) were two Italian sisters of 61 and 56 years old. Both reported a history of progressive visual loss without fundoscopic alterations. P1 reported a 4-year history of rapid visual function worsening, and her best-corrected visual acuity (BCVA) was counting fingers in both eyes. P2 reported a 20-year history of mild but progressive visual acuity loss, and her BCVA was 1/10 and 2/10 respectively in her right and left eye. Structural OCT displayed disorganization of outer retinal bands at the macula and foveal cavitation; loss of foveal photoreceptors was remarkably evident on en-face OCT slabs. OCTA quantitative analysis found that vessel density was reduced both at SCP and DCP while choriocapillaris blood flow was relatively spared. Genetic analysis found the same rare dominant c.2873G > C, p.Arg958Pro variant in the RP1L1 gene. The substitution was regarded as moderately radical according to Grantham score while PolyPhen2 classified the amino acidic substitution as probably damaging. Conclusions and importanceOur study expands the mutational spectrum of RP1L1 gene: the rare c.2873G > C, p.Arg958Pro missense variant may be considered a new pathogenic variant for OMD, the first to be identified exclusively in an Italian family. Moreover, our quantitative OCTA data suggest that OMD is characterized by a rarefaction of superficial and deep capillary plexus.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.

To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in "cone dystrophy with supernormal rod responses" (CDSRR). Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG. The mutational screening of the KCNV2 gene was performed with Sanger and Next Generation Sequencing. All patients showed childhood-onset photophobia and progressive visual acuity loss with varying degrees of severity. In multimodal imaging, various degrees of retinal pigment epithelium disturbances and outer retinal atrophy, which tend to be worst with advancing age, were observed. Molecular screening identified a rare presumed truncating variant (p.Glu209Ter) in homozygosity in two families and in compound heterozygosity in a third family. Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease. A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this KCNV2 variant was observed.

Dystrophie des cônes

We report a case of a 30-year-old woman, who complains of a progressive loss of visual acuity since 20 years old. Visual acuity was 1/10 which cannot be improved in both of eyes. The examination of the anterior segment of both of eyes was normal. The fundus examination revealed the existence of a rounded yellowish macular lesion with major macular atrophy in both of eyes (A, B). The vitreous is transparent, the examination of the retinal periphery was normal. The auto fluorescence pictures describe a granular appearance of macula with alternating hypo-autofluorescent (alteration of the pigment epithelium) and hyper-autofluorescent (lipofuscin deposits) points (C, D). Fluorescein angiography shows the presence of macular atrophy accompanied by an alteration in the pigment epithelium. There is also a window effect that achieves the appearance of a bull´s eye at the macula (E, F). An electroretinography was performed confirming the diagnosis of cone dystrophy. Histologically, progressive cone dystrophy corresponds to a selective cone attack and there has long been debate on the origin of the degenerative process, between a primary attack of pigment epithelium and a primary cone attack, which is more likely. Progressive cone dystrophy most often concerns young adults who consult for a decrease in bilateral central visual acuity and which is frequently asymmetrical. The affection quickly evolves towards an acuity between 3/10 and 1/20, then towards a central scotoma.

Evaluation of Personality Features and Mental State of Keratoconus Patients.

Objectives:Keratoconus (KCN) is a disorder that usually appears during adolescence and progressively reduces visual acuity. KCN may lead to differences in personality features as a result of vision loss and the numerous clinical examinations and treatment methods used from a young age. The aim of this study was to better understand the psychological characteristics of KCN patients and to define possible correlations between corneal topographic parameters and psychological state.Methods:A total of 59 KCN cases were included in the study group and were compared with 65 age- and sex-matched healthy individuals. All of the participants underwent a routine ophthalmic examination that included corrected distance visual acuity (CDVA), biomicroscopy, and fundoscopy. The KCN patients were evaluated busing Scheimpflug corneal topography. Psychiatric evaluations were performed using the Eysenck Personality Questionnaire Revised-Short Form (EPQ), the Self-Confidence Scale, the Maudsley Obsessive-Compulsive Inventory (MOCI), and the Beck Depression Inventory (BDI).Results:The mean age of the case and control groups was 23.98±5.7 years and 25.82±5.4 years, respectively. The KCN cases had significantly higher EPQ neuroticism subscale scores; higher MOCI subscale scores, with the exception of the doubting subscale; and higher BDI scores. Analysis of the KCN duration revealed a positive correlation with the checking and slowness subscales of the MOCI, however, there was no significant correlation between the psychometric scale scores, corneal topographic parameters, and CDVA.Conclusion:A substantially asymmetrical course and a relatively long period for KCN to result in severe vision loss might explain the lack of correlations between psychological parameters and visual acuity. Nonetheless, the apparent effect of vision loss on emotional distress cannot be disregarded; the day-to-day progressive loss of visual acuity and multiple, costly interventions may initiate or contribute to a depressive mood in KCN patients. A vicious depressive cycle and the exhaustion of long-term coping mechanisms might be underlying factors for the higher neuroticism scores seen among KCN patients. Both the personality traits and mental state of KCN patients demonstrate distinguishing properties; clinicians working with these patients should consider their mental state in addition to other factors in order to achieve better treatment outcomes.

Lesion of optic nerves and chiasm following bifocal germinoma recurrence

The authors report a patient with recurrent bifocal germinoma of the optical nerves and chiasm after previous combined treatment. The tumor resulted progressive visual acuity loss despite subsequent therapy (glucocorticoid therapy, chemo- and radiotherapy). Differential diagnosis between tumor progression and consequences of radiotherapy was complicated by MRI negative pattern. Subsequent development of the process, signs of anterior visual pathway damage and tumor spread throughout the ventricular system and subarachnoid spaces according to neuroimaging data indicated recurrence of disease.

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report

BackgroundOptic atrophy 1 (OPA1) gene mutations are associated with dominantly inherited optic neuropathy resulting in a progressive loss of visual acuity. Compound heterozygous or homozygous variants that lead to severe phenotypes, including Behr syndrome, have been reported rarely.Case presentationHere, we present a 14-month-old boy with early onset optic atrophy, congenital cataracts, neuromuscular disorders, mental retardation, and developmental delay. Combined genetic testing, including whole exome sequencing (WES) and chromosomal microarray analysis, revealed a concurrent OPA1 variant (c.2189 T > C p.Leu730Ser) and de novo chromosome 3q deletion as pathogenic variants leading to the severe phenotype.ConclusionsOur case is the first reporting a novel missense OPA1 variant co-occurring with a chromosomal microdeletion leading to a severe phenotype reminiscent of Behr syndrome. This expands the mutation spectrum of OPA1 and inheritance patterns of this disease.

Retinal Detachment After Cataract Surgery and Posterior Laser Capsulotomy in a Young Healthy Male Patient: Case Report

Background: The onset of cataract formation is normally experienced in senile age. The process of lens opacification can also be influenced by other factors, including systemic diseases, infection, trauma, medication, ultraviolet light exposure, genetic predisposition and environmental sources. Gradual vision loss accompanied by a myopic refractive shift can be caused by nuclear cataract formation, even in young patients. Phacoemulsification cataract removal and intraocular lens insertion surgery is indicated when visual acuity loss and/or myopic anisometropia becomes a problem. Surgical and laser treatments are risk factors in developing retinal detachment, especially in myopic patients. Case Presentation: This is a case of an early onset nuclear cataract in a young male. A 44-year-old man visited the hospital complaining of gradual vision loss in his right eye. History study revealed no systemic or ophthalmic diseases or trauma. The patient underwent phacoemulsification nuclear cataract removal and intraocular lens insertion surgery in his right eye, followed by Nd:YAG laser posterior capsulotomy 3 years later. He underwent phacoemulsification nuclear cataract surgery in his left eye at the age of 48 years, followed by laser capsulotomy treatment 2 years later. At the age 50, a routine eye examination revealed retinal detachment in his right eye. He underwent vitrectomy surgery twice. Conclusion: Nuclear lens opacification is seldom of clinical importance in young healthy adult patients; however, it can be the cause of progressive visual acuity loss, especially in the presence of a myopic refractive shift. Surgery, laser treatment and myopia are all risk factors in retinal detachment. This case shows that thorough and periodic routine eye examinations are a must when dealing with patients with unexpected and atypical signs and symptoms, especially having underwent surgery and laser treatments.

Meningioma de la vaina del nervio óptico y tratamiento con radioterapia conformacional. Reporte de un caso clínico tratado con largo seguimiento

Introducción: Los meningiomas de la vaina del nervio óptico (MVNO) son tumores inusuales de la vía visual anterior. Sin tratamiento, el crecimiento del tumor lleva a pérdida visual progresiva hasta la ceguera debido a la compresión que ejerce sobre el nervio óptico. Presentación del caso: Paciente, sexo femenino, 42 años, sin antecedentes mórbidos, que en 1992, inicia cuadro de disminución de la agudeza visual del ojo izquierdo. La resonancia magnética (RM) cerebral informa una lesión expansiva fusiforme en relación a la vaina del nervio óptico izquierdo que lo engloba, altamente sugerente de MVNO. En esa ocasión se realiza exploración de órbita la cual resulta frustra, por lo que se decide observación con controles clínicos e imagenológicos anuales, permaneciendo estable. Aproximadamente diez años más tarde, en el lapso de un año, inicia agravación progresiva de la agudeza y campo visual, ptosis palpebral y alteraciones de la oculo-motilidad del ojo izquierdo, objetivadas por examen neuro-oftalmológico, por lo que se sospecha progresión de MVNO. Se solicita nueva RM que confirma crecimiento significativo del tumor. Se descarta nuevo abordaje quirúrgico por riesgo de mayor deterioro visual y se efectúa radioterapia conformacional con una dosis de 54 Gy. Actualmente, a la edad de 65 años, se cumplen 24 años de evolución, 13 post radioterapia, confirmándose estabilidad clínica y radiológica de MVNO. Discusión: La radioterapia, cuando se observaprogresión de la enfermedad, ha demostrado ser una terapia eficaz para los MVNO, con menos complicaciones y con mejores resultados en la preservación de la función visual a largo plazo.

Fitness to drive and chronic eye diseases

For the participation of people with chronic eye problems in social life, the preservation of mobility is an important prerequisite. In the case of chronic illnesses they should also be given the opportunity, in accordance with the Patients Rights Act, to be able to make decisions in good time and independently on the further course of action to be taken in the event of aloss of mobility as aresult of the inability to drive. In the case of achronic progressive loss of visual acuity or loss of field of vision, the ophthalmologist should therefore initiate information and education of the patient at an early stage with respect to apossible impending inability to drive. The place, date and duration of the consultation must be documented. At the patient's request, awritten evaluation report must be prepared by the examining ophthalmologist. In the daily medical routine of the clinic and practice, adistinction should be made between the medical consultation of a chronically ill eye patient on problems of driving safety and fitness to drive and the concerns regarding an assessment to determine fitness to drive in accordance with §12, Annex6 of the driving licence regulations.

The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium

RAB28, a member of the RAS oncogene family, is a ubiquitous, farnesylated, small GTPase of unknown function present in photoreceptors and the retinal pigmented epithelium (RPE). Nonsense mutations of the human RAB28 gene cause recessive cone-rod dystrophy 18 (CRD18), characterized by macular hyperpigmentation, progressive loss of visual acuity, RPE atrophy, and severely attenuated cone and rod electroretinography (ERG) responses. In an attempt to elucidate the disease-causing mechanism, we generated Rab28-/- mice by deleting exon 3 and truncating RAB28 after exon 2. We found that Rab28-/- mice recapitulate features of the human dystrophy (i.e. they exhibited reduced cone and rod ERG responses and progressive retina degeneration). Cones of Rab28-/- mice extended their outer segments (OSs) to the RPE apical processes and formed enlarged, balloon-like distal tips before undergoing degeneration. The visual pigment content of WT and Rab28-/- cones was comparable before the onset of degeneration. Cone phagosomes were almost absent in Rab28-/- mice, whereas rod phagosomes displayed normal levels. A protein-protein interaction screen identified several RAB28-interacting proteins, including the prenyl-binding protein phosphodiesterase 6 δ-subunit (PDE6D) and voltage-gated potassium channel subfamily J member 13 (KCNJ13) present in the RPE apical processes. Of note, the loss of PDE6D prevented delivery of RAB28 to OSs. Taken together, these findings reveal that RAB28 is required for shedding and phagocytosis of cone OS discs.