Symptoma

Dominant Pericentral Pigmentary Retinopathy

Retinitis pigmentosa

Inner retinal structural abnormalities are also present in this rare disease expression. Case report The 32-year-old proband presented with nyctalopia and decreasing visual acuity (VA). [nature.com]

Materials and methods: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted. [tandfonline.com]

Patients with a defined transmission model presented less severe clinical features compared to the remaining patients. Conclusion. [minervamedica.it]

At present, there is no uniformly accepted classification system of RP. [institut-vision.org]

Additional characteristics of each disorder are presented in Table 1. TABLE 1. [entokey.com]

  • Diarrhea

    Available records did not make any note of nonocular manifestations of mild HGSNAT deficiency, such as “coarse facial features, hypertrichosis, contractures, organomegaly, hearing impairment, behavioral and sleeping problems, recurrent infections, diarrhea [mdpi.com]

  • Mental Deterioration

    deterioration.” [44], p. 3745. [mdpi.com]

  • Apraxia

    […] achromatopsia 4 Achromatopsia 5 Acrootoocular Syndrome Aicardi syndrome Alacrima Albinism angioid streaks of choroid aniridia ataxia with oculomotor apraxia type 3 Ataxia-Microcephaly-Cataract Syndrome Ataxia-Oculomotor Apraxia 4 basal laminar drusen [rgd.mcw.edu]

  • Mydriasis

    Muscles, 2 Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement Congenital Fibrosis of Extraocular Muscles, 3B Congenital Fibrosis of Extraocular Muscles, 3C Congenital Fibrosis of Extraocular Muscles, 5 Congenital Mydriasis [rgd.mcw.edu]

  • Spastic Paraplegia

    paraplegia 15 high hyperopia High Myopia with Cataract and Vitreoretinal Degeneration Histiocytic Dermatoarthritis Hyaloideoretinal Degeneration of Wagner infantile cerebellar-retinal degeneration Iris Pigment Epithelium Anomalies Joubert syndrome 4 [rgd.mcw.edu]

Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol. 2007;125:571-573. Grover S, Apushkin MA, Fishman GA. Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. [rarediseases.org]

However, the beneficial effects of DHA do not usually extend beyond a treatment period of two years. [institut-vision.org]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Cessation of treatment may result in clearence but does not appear to affect the retinopathy. Used for treatment of malignant glioma & metastatic breast cancer Three types of retinal toxicity 1. [eyewiki.aao.org]

While we are unsure of the potential benefit of blue light protection, blue-blocking lens treatments will not make things worse. [healio.com]

According to some studies, individuals with adRP have the best prognosis, with the majority of those younger than age 30 years having a visual acuity of 20/30 or better. [institut-vision.org]

Rarely, macular complications may be observed, such as bull'eye maculopathy and macular hole due to foveal ischemia and vitreomacular traction.1 The prognosis varies, as the visual acuity and ocular findings appear stable in the autosomal recessive form2 [nature.com]

No medical treatment is available, although the prognosis is good because the dystrophy is nonprogressive. [entokey.com]

Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993 Mar 15;115(3):360-7. PubMed PMID: 8442497. Traboulsi EI, Maumenee IH. Peters' anomaly and associated congenital malformations. [columbiaeye.org]

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017 Jun;38(6):621-636. [disorders.eyes.arizona.edu]

Etiology Causatives genes RP is characterized by enormous genetic heterogeneity. At least 45 different genes and loci have been identified to cause nonsyndromic RP so far. [institut-vision.org]

These contradictory findings do not provide further insight into the possible etiology of the disease but indicate that the function of the RPE is either normal or slightly diminished in patients with mtDNA A3243G mutations. [bmcophthalmol.biomedcentral.com]

We also report schisis-like INL changes in this rare disease expression; whether this relates to the pathophysiology is uncertain. We speculate that the unusual ERG signal may be due to coincidence of two rare phenotypes in the same individual. [nature.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620-7. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D. [rarediseases.org]

Download references Acknowledgements This study was supported by grants from Hope for Vision, Foundation Fighting Blindness, Macula Vision Research Foundation, Chatlos Foundation, Research to Prevent Blindness, Ruth and Milton Steinbach Fund, and Alcon [nature.com]

Prevention the secondary degeneration of cones in RP represents a very promising approach. This because such a therapy could be applied in a wide range of mutations expressed in rods, and even at late stages of the disease. [institut-vision.org]

Prevention by inadvertent use- If inadvertent use occurs, immediate pars plana vitrectomy with posterior segment lavage Mechanism - Immune complex deposition & activated complement C5a with leucocyte infilteration. [eyewiki.aao.org]

a Research to Prevent Blindness Career Development Award (J.C.), NIH EY012910 (E.A.P.), grants from the Foundation Fighting Blindness (E.A.P. and J.C.), NIH P30EY014104 Core grant. [mdpi.com]