Rapid Vision Loss Secondary to Late Onset Pigmentary Retinal Dystrophy

2011 ◽  
Vol 82 (6) ◽  
pp. 366-367
Author(s):  
Jennifer L. Hill ◽  
Sherrol A. Reynolds ◽  
Nicole Alessi ◽  
Arnie Patrick
Keyword(s):  
Vision Loss ◽  
Late Onset ◽  
Retinal Dystrophy ◽  
Pigmentary Retinal Dystrophy

Familial Drusen, Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese), Pigmented Paravenous Chorioretinal Atrophy and Late-Onset Retinal Degeneration

2021 ◽  
pp. 243-251
Keyword(s):  
Retinal Degeneration ◽  
Vision Loss ◽  
Late Onset ◽  
Retinal Dystrophy ◽  
Gene Mutations ◽  
Disease Process ◽  
Clinical Findings ◽  
Central Vision ◽  
Malattia Leventinese ◽  
Doyne Honeycomb Retinal Dystrophy

Inherited retinal diseases are a group of rare, heterogeneous eye disorders caused by gene mutations that result in degeneration of the retina. Malattia Leventinese, also known as familial drusen, dominant drusen, or Doyne honeycomb retinal dystrophy, was first described in patients living in the Levantine Valley in canton Ticino of southern Switzerland in 1925. Characteristic clinical findings include radial macular drusen, large confluent drusen, and juxtapapillary drusen. Especially early visual symptoms typically starting in the 3rd and 5th decades include reduced central vision, photophobia, and metamorphopsia. Pigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon disease characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinochoroidal atrophy that are distributed along the retinal veins. Patients are usually asymptomatic and the disease process is non-progressive or slow and subtly progressive. It is commonly bilateral and symmetric. The autosomal- dominant late-onset retinal degeneration (L-ORD), caused by C1QTNF5 gene mutations, shows typical retinal abnormalities that can extend beyond the macula, and patients can report night blindness in addition to central vision loss. Interestingly, L-ORD patients can have long anteriorly inserted lens zonules and loss of iris pigment.

scholarly journals Identifying Activity Support Needs for individuals Aging With Disability: Subject Matter Expert Interviews

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 600-600
Author(s):  
Lyndsie Koon ◽  
Megan Bayles ◽  
Elena Remillard ◽  
Wendy Rogers
Keyword(s):  
Subject Matter ◽  
Vision Loss ◽  
Cultural Practices ◽  
Late Onset ◽  
Mobility Impairment ◽  
Privacy Concerns ◽  
Target Populations ◽  
Need Support ◽  
Multi Method Approach

Abstract Technology designed to support aging-in-place for people with long-term disabilities begins with understanding the specific tasks that need support, and individual abilities, preferences, cultural practices, and privacy concerns. Such understanding is best achieved through a multi-method approach that includes direct, detailed assessments of representative users as well as individuals who work with or care for them. Our target users are people who identify as having a sensory or mobility impairment prior to the age of 50, including individuals aging with multiple sclerosis, late-onset hearing loss, and late-onset vision loss. In the present study, we are interviewing Subject Matter Experts (SMEs) to identify the scope of the challenges that should be explored in more depth. The SMEs include caregivers and medical professionals to identify challenges that the target populations experience in their everyday activities, advice about research adaptations, and recruitment ideas.

scholarly journals Drusen in patient-derived hiPSC-RPE models of macular dystrophies

2017 ◽  
Vol 114 (39) ◽  
pp. E8214-E8223 ◽  
Author(s):  
Chad A. Galloway ◽  
Sonal Dalvi ◽  
Sandy S. C. Hung ◽  
Leslie A. MacDonald ◽  
Lisa R. Latchney ◽  
...  
Keyword(s):  
Vision Loss ◽  
Retinal Pigment ◽  
Retinal Dystrophy ◽  
Age Related Macular Degeneration ◽  
In Vivo Studies ◽  
Specific Cell ◽  
Rpe Cells ◽  
Age Related ◽  
Pathway Gene ◽  
Human Pathology

Age-related macular degeneration (AMD) and related macular dystrophies (MDs) are a major cause of vision loss. However, the mechanisms underlying their progression remain ill-defined. This is partly due to the lack of disease models recapitulating the human pathology. Furthermore, in vivo studies have yielded limited understanding of the role of specific cell types in the eye vs. systemic influences (e.g., serum) on the disease pathology. Here, we use human induced pluripotent stem cell-retinal pigment epithelium (hiPSC-RPE) derived from patients with three dominant MDs, Sorsby’s fundus dystrophy (SFD), Doyne honeycomb retinal dystrophy/malattia Leventinese (DHRD), and autosomal dominant radial drusen (ADRD), and demonstrate that dysfunction of RPE cells alone is sufficient for the initiation of sub-RPE lipoproteinaceous deposit (drusen) formation and extracellular matrix (ECM) alteration in these diseases. Consistent with clinical studies, sub-RPE basal deposits were present beneath both control (unaffected) and patient hiPSC-RPE cells. Importantly basal deposits in patient hiPSC-RPE cultures were more abundant and displayed a lipid- and protein-rich “drusen-like” composition. Furthermore, increased accumulation of COL4 was observed in ECM isolated from control vs. patient hiPSC-RPE cultures. Interestingly, RPE-specific up-regulation in the expression of several complement genes was also seen in patient hiPSC-RPE cultures of all three MDs (SFD, DHRD, and ADRD). Finally, although serum exposure was not necessary for drusen formation, COL4 accumulation in ECM, and complement pathway gene alteration, it impacted the composition of drusen-like deposits in patient hiPSC-RPE cultures. Together, the drusen model(s) of MDs described here provide fundamental insights into the unique biology of maculopathies affecting the RPE–ECM interface.

scholarly journals New macular findings in individuals with biallelic KLHL7 gene mutation

2019 ◽  
Vol 4 (1) ◽  
pp. e000234 ◽  
Author(s):  
Ling Zhi Heng ◽  
Joanna Kennedy ◽  
Sarah Smithson ◽  
Ruth Newbury-Ecob ◽  
Amanda Churchill
Keyword(s):  
Young Adults ◽  
Gene Mutation ◽  
Late Onset ◽  
Protein A ◽  
Retinal Dystrophy ◽  
Gene Mutations ◽  
Photoreceptor Cells ◽  
Ubiquitin Proteasome System ◽  
Proper Function ◽  
Homozygous Mutation

ObjectiveThe ubiquitin-proteasome system pathway has been recognised as a crucial cellular mechanism for the proper function of photoreceptor cells. In particular, ubiquitin ligases (E3s) recognise and ubiquitinate specific proteins for degradation. The KLHL7 protein (a BTB-Kelch protein) has been found to play an important role in this process. There have been several reports that heterozygous mutations in the KLHL7 gene in adults are responsible for a rare cause of late-onset autosomal dominant retinitis pigmentosa with preservation of central vision and homozygous mutations in two young children, with Crisponi syndrome (CS)/cold-induced sweating syndrome type 1, result in a recessive form of early-onset peripheral retinal dystrophy type changes. The majority of children do not survive through to adulthood. The objective of this study is to report the visual symptoms and signs of two young adults clinically diagnosed with overlapping BOS/Cisproni syndrome, expanding the phenotypic presentation of KLHL7 gene mutations.Methods and analysisThis is a case report of the ophthalmic findings of two siblings with biallelic KLHL7 gene mutations. Siblings born to a non-consanguineous family and diagnosed with the overlapping clinical phenotype of Bohring-Opitz and and confirmed biallelic KLHL 7 gene mutation by whole exome sequencing were identified. Ophthlamic history and fundal examination was performed and analysed.ResultsBoth patients had similar retinal findings. The fundus shows confluent hypopigmented/pale yellow lesions in the mid-periphery. The optic disc appears to be pale with a ring of atrophy and vessels appear attenuated. The macular of the younger patient shows a depigmented area around the fovea giving a bull’s-eye appearance while the older sibling shows a fibrotic ring around the fovea suggesting a more advanced pathology.ConclusionThis paper expands the retinal phenotype to include a distinctive maculopathy in a recently described homozygous mutation in the KLHL7 gene in two young adults presenting with features that overlap the Bohring-Opitz syndrome and CS.

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