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499 Possible Causes for Mutation in the TTLL5 Gene, Pigment Clumping

  • Cone Rod Dystrophy Type 15
  • Pigmented Paravenous Retinochoroidal Atrophy

    A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina.[ncbi.nlm.nih.gov] Fluorescein angiography showed hyperfluorescence due to the pigment epithelial atrophy together with hypofluorescence corresponding to bone spicule pigment clumping.[ncbi.nlm.nih.gov] Abstract A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina.[bjo.bmj.com]

    Missing: Mutation in the TTLL5 Gene
  • Goldmann-Favre Syndrome

    […] nummular pigment clumping and atrophy at level of RPE (Fig. 1e) 18 M 32 OD: 6/9 ND Constricted visual fields Left macular cysts OS: 6/9 Mid-peripheral nummular pigment clumping[iovs.arvojournals.org] Clumped pigment deposits were recognized in the patients with ESCS and GFS. The CPRD patients without NR2E3 mutations had no detected mutations in NRL or THRB1.[ncbi.nlm.nih.gov] (A) Fundus of the right eye shows lamellar macular holes with microcystic spaces and clumping of retinal pigment epithelium.[synapse.koreamed.org]

    Missing: Mutation in the TTLL5 Gene
  • Sorsby's Fundus Dystrophy

    Progressive retinal pigment epithelial atrophy and peripheral pigment clumping occurred in elderly relatives who lost ambulatory vision.[ncbi.nlm.nih.gov]

    Missing: Mutation in the TTLL5 Gene
  • Adult-Onset Foveomacular Vitelliform Dystrophy

    CONCLUSIONS: In light of previous histopathological studies, the central nonfluorescent spot may be interpreted as a masking effect of a pigment clump, whereas the hyper-fluorescent[ncbi.nlm.nih.gov] […] pattern; the central pigment clump may be present in all cases, but sometimes covered by the central yellow material.[docslide.com.br] VA measured 20/20 RE and 20/30 LE and fundus examination revealed bilateral foveal atrophy with pigment clumping ( Figure 5A ).[ophthalmologymanagement.com]

    Missing: Mutation in the TTLL5 Gene
  • Retinal Pigmentary Dystrophy

    Group of inherited abnormalities in the retina; characterized by night blindness, retinal atrophy, weakening of the retinal vessels, pigment clumping, and contraction of the[icd10data.com] Top: Color fundus photos demonstrate pigment clumping OU, ERM OD, lamellar hole and faint ERM OS. Bottom: Images have been magnified to show macular pigment clumping.[webeye.ophth.uiowa.edu] The retinal findings consist of bone corpuscle pigmentation, coarse pigment clumps and fine pigmentary changes along the retinal veins (Figure 2).[eyewiki.org]

    Missing: Mutation in the TTLL5 Gene
  • Acne Vulgaris

    First, there’s keratin plugs which are tiny clumps made up of dead keratinocytes, the protein keratin, and the pigment melanin.[osmosis.org]

    Missing: Mutation in the TTLL5 Gene
  • Central Areolar Choroidal Dystrophy

    Interindividual phenotypic variability was apparent and ranged from predominantly drusenlike depositions to single perifoveal pigment clumps.[ncbi.nlm.nih.gov] The presence of drusen and pigment clumping was determined with color fundus photography. High-resolution in vivo imaging was performed with cSLO and SD-OCT.[ncbi.nlm.nih.gov] The enlargement of the geographic lesion was associated with an increase in pigment clumps and in the visibility of choroidal vessels.[wwe.geoscience.net]

    Missing: Mutation in the TTLL5 Gene
  • Retinitis Pigmentosa

    The changes are most commonly pigment clumping in the retina, thinning of the blood vessels and/or paleness of the optic nerve [figure 1].[aapos.org] clumping, and contraction of the visual field Applies To Retinal dystrophy, albipunctate Retinitis pigmentosa ICD-9-CM Volume 2 Index entries containing back-references to[icd9data.com] The term “pigmentosa” refers to the characteristic pigment clumping seen on examination of the retina in many forms of RP.[rawa.com.au]

    Missing: Mutation in the TTLL5 Gene
  • Retinal Telangiectasia

    Pigment clumps with a whitish discoloration are seen to the right of the macular center.[eyecenters.com] In stage 4, black retinal pigmented epithelial hyperplasia, or clumps around the right-angled venules, are seen.[retinalphysician.com] Discussion Macular telangiectasia type 2 is a rare, typically bilateral condition characterised by perifoveal telangiectatic vessels, pigment clumping, crystalline deposits[retina.com.au]

    Missing: Mutation in the TTLL5 Gene

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