scholarly journals Characterization of SSBP1-related optic atrophy and foveopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Isabelle Meunier ◽  
Béatrice Bocquet ◽  
Sabine Defoort-Dhellemmes ◽  
Vasily Smirnov ◽  
Carl Arndt ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Impairment ◽  
Optic Atrophy ◽  
Age Of Onset ◽  
Fundus Autofluorescence ◽  
Cone Dystrophy ◽  
Incomplete Penetrance ◽  
Fiber Layer ◽  
Major Criterion

AbstractDominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutinized using 20° × 20° macular cube and 30° and 55° field fundus autofluorescence photographs. Age of onset, visual acuity, retinal nerve fiber layer and macular thicknesses were recorded. Three SSBP1-patients were asymptomatic, 10 had isolated DOA, and 12 had a combined DOA plus foveopathy. The foveopathy, with a tiny defect of the ellipsoid and interdigitation lines, was similar in all patients, independent of age. There were no significant statistical differences in terms of visual acuity and SD-OCT measurements between patients with isolated DOA (mean visual acuity in decimals: 0.54 ± 0.41) and those with combined foveopathy (0.50 ± 0.23). Two patients over 50 years of age developed a progressive rod-cone dystrophy, leading to severe visual impairment. SSBP1-related DOA shares similarities with OPA1-related DOA with an incomplete penetrance and an early childhood visual impairment. Nevertheless, the presence of a congenital foveopathy with no impact on visual acuity is a major criterion to distinguish SSBP1 cases and orient the appropriate genetic analysis.

Neuro-ophthalmological assessment of vision before and after radiation therapy alone for pituitary macroadenomas

1990 ◽  
Vol 72 (4) ◽  
pp. 594-599 ◽  
Author(s):  
Stephen C. Rush ◽  
Mark J. Kupersmith ◽  
Irving Lerch ◽  
Paul Cooper ◽  
Joseph Ransohoff ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Radiation Therapy ◽  
Visual Field ◽  
Visual Impairment ◽  
Optic Atrophy ◽  
Radiation Treatment ◽  
Visual Field Defects ◽  
Content Type ◽  
Pituitary Macroadenomas

✓ Between 1972 and 1988, 25 patients were treated by radiation therapy (RT) alone for pituitary macroadenomas causing visual impairment. Twenty-three patients were evaluated by a neuro-ophthalmologist before treatment and at the time of follow-up review. Radiation treatment consisted of 4000 to 5000 cGy over 4 to 5 weeks. The median follow-up period was 36 months (range 2 to 192 months). Eighteen patients (78%) experienced visual field improvement. Deterioration occurred in four patients due to tumor recurrence, tumor hemorrhage, possible optic nerve necrosis, and optic chiasm herniation. Visual field improvement occurred predominantly in patients whose pretreatment visual field defects were less than a dense hemianopsia, who did not have diffuse optic atrophy, and who were younger than the median age of 69 years (p < 0.001). Visual acuity improvement occurred in patients without diffuse optic atrophy, with only mild impairment of the visual acuity, and with only mild visual field loss prior to RT (p < 0.002). It is concluded that there is a subset of patients with pituitary macroadenomas and visual impairment for whom primary RT is a treatment option.

Visual impairment and perceptual visual disorders in children with cerebral palsy in Nigeria

2020 ◽  
pp. bjophthalmol-2020-317768
Author(s):  
Roseline Ekanem Duke ◽  
Justin Nwachukuw ◽  
Chima Torty ◽  
Uche Okorie ◽  
Min J Kim ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Cerebral Palsy ◽  
Visual Impairment ◽  
Optic Atrophy ◽  
Wide Spectrum ◽  
Visual Fields ◽  
Cross River State ◽  
Age Appropriate ◽  
Ocular Morbidity ◽  
Visual Disorders

Cerebral palsy (CP) is the most common cause of childhood physical disability globally. This study describes the spectrum of ocular morbidity and visual impairment in a community-based (recruited by key informants) sample of children with CP in Cross River State, Nigeria.MethodsA paediatric neurologist clinically confirmed CP and assessed systemic comorbidity. Ophthalmological assessment included developmental age appropriate acuity tests, objective refraction and objective and subjective tests of perceptual visual dysfunction (PVD).Results388 children aged 4–15 years with CP were identified. Visual problems were reported by carers in only 55 (14%) cases. Binocular visual acuity impairment was seen in 20/201 by Lea symbols test (10%) and 213/388 (55%) by the mirror test. Abnormal visual fields were seen in 58/388 (14.9%); strabismus in 183 (47%) abnormal contrast sensitivity in 178 (46%) and abnormal saccades in 84 (22%), spherical refractive errors in 223 (58%), significant astigmatism in 36 (12%), accommodative dysfunction in 41 (10.6%), optic atrophy in 198 (51%). Perceptual visual disorders were present in 22 (6%) subjectively and 177 (46%) objectively. The estimated frequency of cerebral visual impairment (CVI) in children ranged from 61 (16%) to 191 (49%) if children with optic atrophy were included.ConclusionChildren with CP have a wide spectrum of ocular morbidity and visual impairment, underestimated by carers. Children with CP require visual acuity assessments with a range of tests which account for associated comorbidities and oculomotor dysfunction. Functional vision assessments for PVD is important. CVI is common.

scholarly journals Complex Therapy Response in Treatment of Partial Optic Atrophy of Various Origins

Medicina ◽  
2020 ◽  
Vol 8 (2) ◽  
pp. 1-9
Author(s):  
A. D. Chuprov ◽  
◽  
S. M. Kim ◽  
N. V. Korshunova ◽  
A. V. Fomenko ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
Nerve Fiber ◽  
Layer Thickness ◽  
Optic Disc ◽  
Optic Atrophy ◽  
Fiber Layer ◽  
Nerve Fiber Layer Thickness ◽  
Group I ◽  
Complex Therapy

Regional drugs injection is а promising method of partial optic atrophy treatment. The therapy involves the introduction of drugs into the microcirculation region on the side of the affected organ, in the area corresponding to the topographic projection of the lymph node. Purpose: To evaluate the effectiveness of treatment of partial optic atrophy of various origins using regional combination therapy. Material and Methods: Complex therapy was applied in hospital environment of The S. Fyodorov Eye Microsurgery Federal State Institution in treatment of 38 patients (38 eyes) with partial optic atrophy of various origins. The patients were divided into two groups: group I (27 eyes), diagnosed with partial optic atrophy of glaucomatous origin, group II (11 eyes), diagnosed with partial optic atrophy of mixed genesis. Before and after treatment, all the patients passed standard ophthalmological examination, as well as optical coherence tomography (OCT).The parameters of the optic disk were assessed using Cirrus 5000 retinal tomograph by Carl Zeiss Meditecinc (Germany). Results: After 12 months of complex treatment, administered 2 times a year and included injections in the pterygopalatine fossa and submastoid region, in patients of group I the following indices were registered: an increase in visual acuity by 0.1-0.2, a decrease in relative scotoma number by13%, stability of the nerve fiber layer thickness and excavation of the optic disc. Total visual field expanded up to 220-335. After 12 months of treatment, administered 2 times a year in patients of group II the following indices were registered: an increase in visual acuity by 0.1-0.3, a decrease in relative scotoma number by 9%, stability of the nerve fiber layer thickness and excavation of the optic disc. The total visual field after treatment expanded up to 310-450. Conclusion: the application of complex therapy in treatment of patients with partial optic atrophy of various origins has positive effect on visual function.

scholarly journals Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)

2021 ◽  
Vol 18 (1) ◽  
pp. 157-164
Author(s):  
I. V. Zolnikova ◽  
V. V. Kadyshev ◽  
A. V. Marakhonov ◽  
S. I. Kutsev ◽  
R. A. Zinchenko
Keyword(s):  
Visual Acuity ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Optic Disk ◽  
Visual Field Defects ◽  
Cone Dystrophy ◽  
Fiber Layer ◽  
Dominant Type ◽  
Full Field ◽  
Sense Of Smell

The purpose: to describe clinical cases of oculodental-digital dysplasia (ODDD, OMIM #164200) with mutation in GJA1 (OMIM 121014) with molecular genetic verification of the diagnosis.Methods. The article describes the clinical case of oculodental-digital dysplasia in a 51 years old patient. Patient underwent full ophthalmic examination including autorefractometry, visual acuity testing with full correction, tonometry, biomicroscopy, fundus examination and photo as well as kinetic perimetry, autofluorescence and optical coherence tomography (OCT) of macula and optic disk were performed. Electrophysiological examination included Visual Evoked Potentials (VEP) to flash and pattern stimulation, ISCEV standard electroretinograms (ERG) and macular ERG. For the verification of the diagnosis and pathologic gene molecular genetic examination was performed with family anamnesis previously attained.Results. The patient was complaining the deterioration of vision, hearing loss and the sense of smell. Visual deterioration was associated with nyctalopia. Natural history revealed glaucoma 2а which was diagnosed when he was 48 years old. Best corrected visual acuity was 1,0. Peripheral visual field defects were revealed bilaterally. High visual acuity correlated with normal foveal structure on OCTs the retinal nerve fiber layer (RNFL) was thinner than normal in temporal half; deep excavation was visualized in both eyes. Normal MERG and bilateral decrease of scotopic, maximal full-field ERG was recorded which correlated with nyctalopia, as well as subnormal photopic responses indicating cone system involvement. The genetics revealed characteristic features of the face: a small nose with hypoplasia of the wings of the nose, unfolded nostrils and a wide bridge of the nose (pseudohypertelorism). On right-wing the ear sink was detected 2 antitraguses. Changes fingers upper extremities — operated syndactyly IV and V on the background of brachydactyly of the fingers. On the legs on both sides — syndactyly III–IV. 10 years the sense of smell has been dereriorated. In the study of DNA in proband in direct Sanger sequencing of all exons 1–2 and regions of exon-intron compounds of gene GJA1, was found the pathogenic variant in second exon c.412G>A (p.Gly138Ser) in heterozygous state. Was established autosomal dominant type of disease.Conclusion. We are the first to describe rod-cone dystrophy in oculodental-digital dysplasia.

scholarly journals Atteintes Oculaires Au Cours Du Syndrome De Wolfram À Propos De Deux Cas Et Revue De La Littérature

2017 ◽  
Vol 13 (27) ◽  
pp. 269
Author(s):  
Abba Kaka H.Y ◽  
Guirou N. ◽  
Berete C.R. ◽  
Amza A. ◽  
Daou M.
Keyword(s):  
Visual Acuity ◽  
Optic Atrophy ◽  
Neurodegenerative Disorder ◽  
Age Of Onset ◽  
Type I Diabetes ◽  
Hypogonadotropic Hypogonadism ◽  
Wolfram Syndrome ◽  
Type I ◽  
Diabetic Ketosis ◽  
The Right

Introduction: Wolfram syndrome is an autosomal recessive neurodegenerative disorder. Diabetes mellitus and juvenile bilateral optic atrophy are its major signs. It is recognized that this association, which started in childhood or during adolescence, is sufficient to diagnose Wolfram syndrome. Optic atrophy occurs in 98% to 100% of cases with an average age of onset of 11 years. We reported a study of two confirmed cases referred by the internal medicine department. Observations: Case 1: A 23- year-old woman, deaf and dumb by birth, went through a diabetic ketosis test. Ophthalmologic examination showed reduced visual acuity in the fingers at 5 meters P2 in both eyes. Also, the fundus of the eye showed bilateral atrophic papillary palpation with no signs of retinopathy. She had deafness of deep perception and hypogonadotropic hypogonadism. Deafness, diabetes, optic atrophy, and hypogonadism led to the diagnosis. Case 2: A 21-year-old man born from a first-degree consanguineous marriage serves as a supplement to the management of diabetes. The visual acuity was at counting fingers at 1m to the right eye and sees the hand move to 0.5 m to the left eye. On examination at the slit lamp, it had a bilateral dense cataract. After phacoexeresis, the base revealed bilateral optic atrophy. Ultrasound of the urinary tree showed hypotonia of the renal cavities and a neurogenic bladder. Also, audiometry showed mild sensory deafness. The diagnosis of Wolfram syndrome was made in front of the tetrad: diabetes, optic atrophy, deafness, and urinary signs. Discussion: Wolfram syndrome may be familial or sporadic. The gene however is located on the short arm of chromosome 4. Optic atrophy is secondary to the involvement of pre-genetic fibers, and it is characterized initially by temporal palpation of the papilla. The evolution towards diffuse whitish discoloration occurs in a few months or years with the gradual establishment of a blindness around the age of 17 to 30 years. Conclusion: Wolfram syndrome is a clinical entity characterized by clinical and genetic polymorphism. This diagnosis should be considered in the presence of any type I diabetes associated with optic atrophy in children

scholarly journals Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

2021 ◽  
Vol 22 (5) ◽  
pp. 2374
Author(s):  
Laura Kuehlewein ◽  
Ditta Zobor ◽  
Katarina Stingl ◽  
Melanie Kempf ◽  
Fadi Nasser ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Genetic Testing ◽  
Retinitis Pigmentosa ◽  
Fundus Autofluorescence ◽  
Retinal Disease ◽  
New Drugs ◽  
Autofluorescence Imaging ◽  
Full Field ◽  
Tertiary Referral Center ◽  
The Right

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic visual field (VF), full-field electroretinography, full-field stimulus threshold, spectral domain optical coherence tomography, and fundus autofluorescence imaging. The genetic testing comprised candidate gene sequencing, inherited retinal disease gene panel sequencing, whole-genome sequencing, and testing for familial variants by Sanger sequencing. Twenty-four patients with mutations in PDE6B from 21 families were included in the study (mean age at the first visit: 32.1 ± 13.5 years). The majority of variants were putative splicing defects (8/23) and missense (7/23) mutations. Seventy-nine percent (38/48) of eyes had no visual acuity impairment at the first visit. Visual acuity impairment was mild in 4% (2/48), moderate in 13% (6/48), and severe in 4% (2/48). BCVA was symmetrical in the right and left eyes. The kinetic VF measurements were highly symmetrical in the right and left eyes, as was the horizontal ellipsoid zone (EZ) width. Regarding the genetic findings, 43% of the PDE6B variants found in our patients were novel. Thus, this study contributed substantially to the PDE6B mutation spectrum. The visual acuity impairment was mild in 83% of eyes, providing a window of opportunity for investigational new drugs. The EZ width was reduced in all patients and was highly symmetric between the eyes, making it a promising outcome measure. We expect these findings to have implications on the design of future PDE6B-related retinitis pigmentosa (RP) clinical trials.

scholarly journals Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1421
Author(s):  
Yu-Chi Sung ◽  
Chang-Hao Yang ◽  
Chung-May Yang ◽  
Chao-Wen Lin ◽  
Ding-Siang Huang ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinal Degeneration ◽  
Medical Center ◽  
Fundus Autofluorescence ◽  
Genetic Diagnosis ◽  
Common Disease ◽  
Genetic Characteristics ◽  
Retinal Dystrophies ◽  
High Prevalence ◽  
Abca4 Gene

The ABCA4 gene is one of the most common disease-causing genes of inherited retinal degeneration. In this study, we report different phenotypes of ABCA4-associated retinal dystrophies in the Taiwanese population, its clinical progression, and its relationship with genetic characteristics. Thirty-seven subjects were recruited and all patients underwent serial ophthalmic examinations at a single medical center. Fundus autofluorescence (FAF) images were quantified for clinical evaluation, and panel-based next-generation sequencing testing was performed for genetic diagnosis. Visual preservation, disease progression, and genotype–phenotype correlation were analyzed. In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa (32.43%), and cone-rod dystrophy (5.41%). STGD1 could be further divided into central and dispersed types. In each phenotype, the lesion areas quantified by FAF increased with age (p < 0.01) and correlated with poorer visual acuity. However, three patients had the foveal sparing phenotype and had relatively preserved visual acuity. Forty-two ABCA4 variants were identified as disease-causing, with c.1804C>T (p.Arg602Trp) the most frequent (37.84%). Patients with a combination of severe/null variants could have more extensive phenotypes, such as arRP and dispersed STGD1. This is the first cohort study of ABCA4-associated retinal degeneration in Taiwan with wide spectrums of both genotypic and phenotypic characteristics. An extremely high prevalence of c.1804C>T, which has not been reported in East Asia before, was noted. The extensiveness of retinal involvement might be regarded as a spectrum of ABCA4-associated retinal dystrophies. Different types of genetic variations could lead to distinctive phenotypes, according to the coding impact of variants.

scholarly journals The Effect of Octapeptide Repeats on Prion Folding and Misfolding

2021 ◽  
Vol 22 (4) ◽  
pp. 1800
Author(s):  
Kun-Hua Yu ◽  
Mei-Yu Huang ◽  
Yi-Ru Lee ◽  
Yu-Kie Lin ◽  
Hau-Ren Chen ◽  
...  
Keyword(s):  
Amyloid Fibrils ◽  
Age Of Onset ◽  
Prion Diseases ◽  
Critical Role ◽  
Threshold Effect ◽  
Central Feature ◽  
Terminal Domain ◽  
Amyloid Aggregates

Misfolding of prion protein (PrP) into amyloid aggregates is the central feature of prion diseases. PrP has an amyloidogenic C-terminal domain with three α-helices and a flexible tail in the N-terminal domain in which multiple octapeptide repeats are present in most mammals. The role of the octapeptides in prion diseases has previously been underestimated because the octapeptides are not located in the amyloidogenic domain. Correlation between the number of octapeptide repeats and age of onset suggests the critical role of octapeptide repeats in prion diseases. In this study, we have investigated four PrP variants without any octapeptides and with 1, 5 and 8 octapeptide repeats. From the comparison of the protein structure and the thermal stability of these proteins, as well as the characterization of amyloids converted from these PrP variants, we found that octapeptide repeats affect both folding and misfolding of PrP creating amyloid fibrils with distinct structures. Deletion of octapeptides forms fewer twisted fibrils and weakens the cytotoxicity. Insertion of octapeptides enhances the formation of typical silk-like fibrils but it does not increase the cytotoxicity. There might be some threshold effect and increasing the number of peptides beyond a certain limit has no further effect on the cell viability, though the reasons are unclear at this stage. Overall, the results of this study elucidate the molecular mechanism of octapeptides at the onset of prion diseases.

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