Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up

2020 ◽  
pp. 112067212091672
Author(s):  
Andrea Lembo ◽  
Giacomo Maria Bacci ◽  
Massimiliano Serafino ◽  
Stefano Lucentini ◽  
Roberto Caputo ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Early Onset ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Unusual Presentation ◽  
Macular Dystrophy ◽  
Wide Field ◽  
The Right

Purpose: To describe the unusual presentation, diagnosis, and clinical course of an early-onset X-linked infantile retinoschisis Case report: A 6-month-old infant presented with strabismus and poor fixation. After the detection of bilateral intraretinal hemorrhage and diffuse dystrophic retinal pattern at indirect ophthalmoscopy, the patient received a complete evaluation under anesthesia. Retinal wide-field imaging, spectral domain optical coherence tomography, and electroretinogram were performed and revealed a retinoschisis involving the posterior pole and the inferior periphery in the right eye. In the left eye, an inferior retinal detachment extending to the macula was detected. Blood sample and genetic counseling were required in the strong suspicion of an inherited retinal dystrophy. Genetic tests confirmed the diagnosis of X-linked retinoschisis (RS1 gene mutation). After consultation with a pediatric vitreoretinal surgeon, a wait and see strategy was chosen. The follow up visits showed a surprisingly good natural course of the disease. Conclusion: X-linked retinoschisis is a well-known inherited retinal disease potentially affecting young children as early as 3 months old. In this case, the stunning presentation (diffuse retinal pigment epithelium dystrophic changes resembling a macular dystrophy) and the positive course of the disease (resolution of macular retinal detachment in the left eye and stability of schisis in the right eye) arise some interesting considerations about the necessity of an early surgical treatment.

Acquired retinoschisis and vitreous hemorrhage as unusual findings in choroideremia: Case report

2020 ◽  
pp. 112067212094657
Author(s):  
Dario Pasquale Mucciolo ◽  
Vittoria Murro ◽  
Dario Giorgio ◽  
Andrea Sodi ◽  
Ilaria Passerini ◽  
...  
Keyword(s):  
Case Report ◽  
Retinal Pigment Epithelium ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Vitreous Hemorrhage ◽  
Advanced Stage ◽  
Vascular Abnormalities ◽  
Diagnostic Difficulties ◽  
The Right

Purpose: To report a case of choroideremia characterized by peripheral retinoschisis with vascular abnormalities and vitreous hemorrhage. Observations: A 58-year-old man affected by advanced-stage choroideremia was diagnosed with peripheral retinoschisis in both eyes. Vitreous hemorrhage was present in the right eye with a peculiar clot-like lesion at the periphery. At the 1-year follow-up, the vitreous hemorrhage had reabsorbed and the vascular clot-like lesion in the periphery had almost completely disappeared. Conclusion and importance: We have reported fundoscopic and OCT features of peripheral-acquired retinoschisis with vascular abnormalities in a patient with choroideremia. OCT examination is extremely useful in clinical evaluation of the peripheral retinal alterations in these cases, where the absence of the retinal pigment epithelium and the choriocapillaris pose many diagnostic difficulties.

Vitreoretinal Surgery for Retinal Detachment in Retinochoroidal Colobomata

2008 ◽  
Vol 18 (2) ◽  
pp. 304-308 ◽  
Author(s):  
S.C.B. Teoh ◽  
E.J. Mayer ◽  
R.J. Haynes ◽  
R.H.B. Grey ◽  
A.D. Dick ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Silicone Oil ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Hand Movement ◽  
Vitreoretinal Surgery ◽  
Scleral Buckling ◽  
Tertiary Referral Center ◽  
Near Work

Purpose To report the management and outcome of retinal reattachment surgery in retinochoroidal coloboma. Methods Four patients with retinochoroidal colobomata presented to the Bristol Eye Hospital (a UK tertiary referral center for vitreoretinal surgery) with retinal detachment. INTERVENTION. All were type II colobomatous detachments (three patients with type IIB, one patient with type IID). All eyes underwent vitrectomy with endolaser and/or cryotherapy and three eyes underwent scleral buckling. Two eyes had internal tamponade with gas (SF6, C3F8) while the other two had silicone oil. Endolaser was applied over healthy retinal pigment epithelium. Results At last follow-up, all (100%) remained attached, with no recurrences. Three patients achieved visual acuity of 6/120 or better and were able to perform satisfactory near work with appropriate magnifiers. The last patient began with hand movement vision and retained similar vision but subjectively felt more navigational. Conclusions Good anatomic and functional outcomes can be achieved in this patient group with combined vitrectomy with or without scleral buckling surgery. Endolaser retinopexy is effective over healthy RPE at the margin of the coloboma combined with either gas or oil internal tamponade.

scholarly journals Spontaneous Closure of the Macular Hole in a Patient with Acquired Vitelliform Lesion

2020 ◽  
Vol 11 (1) ◽  
pp. 16-21
Author(s):  
Masanori Fukumoto ◽  
Shou Oosuka ◽  
Takaki Sato ◽  
Teruyo Kida ◽  
Tsunehiko Ikeda
Keyword(s):  
Retinal Detachment ◽  
Macular Hole ◽  
Rare Case ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Serous Retinal Detachment ◽  
Subretinal Fluid ◽  
Spontaneous Closure ◽  
Retinal Reattachment

In this paper, we report an extremely rare case of spontaneous closure of a macular hole (MH) that developed in a patient in whom acquired vitelliform lesion (AVL) occurred after vitrectomy for atopic retinal detachment (ARD). A 32-year-old male developed ARD in both eyes, and retinal reattachment was achieved after vitrectomy. Five years after surgery, optical coherence tomography showed localized serous retinal detachment (SRD) and a granular lesion with a higher brightness in the subretinal fluid, thus leading to the diagnosis of AVL. One month later, an MH developed, and a follow-up examination performed 6 weeks later revealed that the MH had spontaneously closed and the SRD decreased. In the fovea, fluorescein angiography revealed a window defect due to atrophy of the retinal pigment epithelium (RPE). These findings in this present case suggest the possibility that RPE dysfunction was involved in the development of AVL and MH.

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy

2019 ◽  
Vol 104 (2) ◽  
pp. 173-181 ◽  
Author(s):  
Marina Riera ◽  
Víctor Abad-Morales ◽  
Rafael Navarro ◽  
Sheila Ruiz-Nogales ◽  
Pilar Méndez-Vendrell ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Macular Dystrophy ◽  
Nucleotide Polymorphisms ◽  
Autofluorescence Imaging ◽  
New Genotype

PurposeThis study aimed to identify the underlying genetic cause(s) of inherited retinal dystrophy (IRD) in 12 families of Kuwaiti origin affected by macular dystrophy and four Spanish patients affected by retinitis pigmentosa (RP).MethodsClinical diagnoses were based on standard ophthalmic evaluations (best-corrected visual acuity, retinography, fundus autofluorescence imaging, optical coherence tomography, electroretinography and visual field tests). Panel-based whole exome sequencing was used to simultaneously analyse 224 IRD genes in one affected member of each family. The putative causative variants were confirmed by Sanger sequencing and cosegregation analyses. Haplotype analysis was performed using single nucleotide polymorphisms.ResultsA homozygous missense mutation c.606C>A (p.Asp202Glu) in RP1 was found to be the molecular cause of IRD in all 12 families from Kuwait. These patients exhibited comparable symptoms, including progressive decline in visual acuity since adolescence. Fundus autofluorescence images revealed bilateral macular retinal pigment epithelium disturbances, with neither perimacular flecks nor peripheral alterations. A shared haplotype spanning at least 1.1 Mb was identified in all families, suggesting a founder effect. Furthermore, RP1 variants involving nonsense and/or frameshifting mutations (three of them novel) were identified in three Spanish autosomal-recessive RP families and one dominant RP pedigree.ConclusionThis study describes, for the first time, a macular dystrophy phenotype caused by an RP1 mutation; establishing a new genotype-phenotype correlation in this gene, expanding its mutation spectrum and further highlighting the clinical heterogeneity associated with IRD.

CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up

2021 ◽  
pp. bjophthalmol-2020-316781
Author(s):  
Mays Talib ◽  
Caroline Van Cauwenbergh ◽  
Julie De Zaeytijd ◽  
David Van Wynsberghe ◽  
Elfride De Baere ◽  
...  
Keyword(s):  
Visual Function ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Posterior Uveitis ◽  
Cone Dystrophy ◽  
Macular Dystrophy ◽  
Genetic Characteristics ◽  
Retinal Dystrophies ◽  
Retinal Structure

AimTo investigate the natural history in a Belgian cohort of CRB1-associated retinal dystrophies.MethodsAn in-depth retrospective study focusing on visual function and retinal structure.ResultsForty patients from 35 families were included (ages: 2.5–80.1 years). In patients with a follow-up of >1 year (63%), the mean follow-up time was 12.0 years (range: 2.3–29.2 years). Based on the patient history, symptoms and/or electroretinography, 22 patients (55%) were diagnosed with retinitis pigmentosa (RP), 15 (38%) with Leber congenital amaurosis (LCA) and 3 (8%) with macular dystrophy (MD), the latter being associated with the p.(Ile167_Gly169del) mutation (in compound heterozygosity). MD later developed into a rod-cone dystrophy in one patient. Blindness at initial presentation was seen in the first decade of life in LCA, and in the fifth decade of life in RP. Eventually, 28 patients (70%) reached visual acuity-based blindness (<0.05). Visual field-based blindness (<10°) was documented in 17/25 patients (68%). Five patients (13%) developed Coats-like exudative vasculopathy. Intermediate/posterior uveitis was found in three patients (8%). Cystoid maculopathy was common in RP (9/21; 43%) and MD (3/3; 100%). Macular involvement, varying from retinal pigment epithelium alterations to complete outer retinal atrophy, was observed in all patients.ConclusionBi-allelic CRB1 mutations result in a range of progressive retinal disorders, most of which are generalised, with characteristically early macular involvement. Visual function and retinal structure analysis indicates a window for potential intervention with gene therapy before the fourth decade of life in RP and the first decade in LCA.

Fingolimod-associated central serous chorioretinopathy in a young girl

2021 ◽  
Vol 14 (8) ◽  
pp. e243207
Author(s):  
Gajanan Chavhan Pratima ◽  
Doris Benita ◽  
Sandip Sarkar ◽  
Amit Kumar Deb
Keyword(s):  
Central Serous Chorioretinopathy ◽  
Complete Resolution ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Subretinal Fluid ◽  
Corrected Visual Acuity ◽  
Sphingosine 1 Phosphate ◽  
Eye Examination ◽  
The Right

Fingolimod is a sphingosine-1-phosphate analogue used for the treatment of multiple sclerosis. We, hereby, report a rare case of fingolimod-associated central serous chorioretinopathy (CSCR) in a 21-year-old woman who presented with blurring of vision in the right eye 3 weeks after initiation of oral fingolimod. On examination, best-corrected visual acuity was 20/20 in both the eyes. Fundus examination revealed shallow, serous macular neurosensory detachment in the right eye, and it was confirmed with spectral domain optical coherence tomography. Left eye fundus was normal. Fluorescein angiography showed focal retinal pigment epithelium leak inferior to the fovea. A diagnosis of fingolimod-associated CSCR was made. Oral fingolimod was discontinued. Subsequent follow-up visits showed partial resolution of CSCR at 2 weeks and at 1 month and complete resolution of the subretinal fluid at 2 months. CSCR is, therefore, a rare adverse effect of oral fingolimod treatment. Baseline eye examination and subsequent follow-up at regular intervals are recommended for patients on fingolimod.

Multimodal imaging in retinal pigment epithelium rip with exudative bullous retinal detachment

2020 ◽  
Vol 13 (9) ◽  
pp. e235731
Author(s):  
Padmaja Kumari Rani ◽  
Aniruddh Soni
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinal Detachment ◽  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Subretinal Fluid ◽  
Exudative Retinal Detachment ◽  
Bullous Retinal Detachment ◽  
Subretinal Fluid Drainage

A middle-aged man presented with exudative retinal detachment in the left eye. He was previously diagnosed as a case of large pigment epithelial detachment in the same eye, for which he was asked to follow-up closely, citing the risk of an retinal pigment epithelium (RPE) rip. Multimodal imaging confirmed the presence of a large RPE rip with exudative retinal detachment. He is a known retrovirus patient on anti-retroviral therapy with stable CD4 counts. He was diagnosed as a possible case of bullous variant of central serous chorioretinopathy and underwent external subretinal fluid drainage. We highlight the multimodal imaging findings of RPE rip with exudative retinal detachment and its impact on the patients visual acuity.

scholarly journals Spontaneous Resolution of a Rhegmatogenous Retinal Detachment

2019 ◽  
Vol 0 (0) ◽  
Author(s):  
Biljana Vukadinovic-Pajovic ◽  
Miroslav Stamenkovic ◽  
Dusan Todorovic ◽  
Suncica Srecković ◽  
Vladimir Jakovljevic
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinal Detachment ◽  
Rhegmatogenous Retinal Detachment ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Vitreous Body ◽  
Tertiary Level ◽  
Ophthalmological Examination ◽  
Level Institution ◽  
The Right

Abstract A retinal detachment is the term used to describe detachment of the neurosensory retina from the underlying membrane, the retinal pigment epithelium (RPE). Rhegmatogenous detachments are caused by a break in the retina through which fluid passes from the vitreous cavity into the subretinal space. The incidence of rhegmatogenous retinal detachment in the general population in Europe is 1 in 10 000 persons per year. Danger is the greatest in the age range from 55 to 70 years. Without treatment, blindness in the affected eye may occur. Individual risks depend on the presence or absence of specific factors including myopia, positive family anamnesis, retina rupture, trauma, ablation in the other eye, ablation in a vitreous body, retina high-risk peripheral de-generations and vitreoretinal degenerations. Majority of the untreated rhegmatogenous retina ablations progress to the subtotal or total retinal detachment and blindness. This paper describes a very rare case of the spontaneous complete reattachment of the sensory retina to the retinal pigment epithelium in a patient with the total rhegmatogenous retinal ablation in the right eye. The female patient, who was 52 years old, was examined by an Ophthalmologist after she had experienced a sudden loss of vision, 2 months before appointment. After a detailed ophthalmological examination, a total rhegmatogenous retinal ablation of the right eye was diagnosed. The best corrected visual acuity, evaluated on a Snellen chart, was 2/60. The patient was referred to a tertiary-level Institution since a surgical intervention of the ablation was needed. Due to technical inabilities in the above-mentioned Institution, the operation was not performed, and despite the recommendation to perform the intervention in another tertiary-level Institution, the patient did not have ophthalmological examinations during the following three months. During the next visit, the Ophthalmologist determined that there was a spontaneous retinal fixation on the retinal pigment epithelium and a partial restoration of the visual function of the affected eye which was evaluated at 0.5.

Sign in / Sign up

Export Citation Format

Share Document