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352 Possible Causes for Retinal Pigmentation, Round Face

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] Defining this natural history is essential for a proper comparison with Hunter patients receiving systemic treatment, thus determining if it can or cannot improve retinal[ncbi.nlm.nih.gov] CONCLUSION: Our multimodal analysis reported here attempted to contribute to the knowledge of the natural history of GAG deposition in the eye, focusing on the retina and retinal[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org]

  • Macular Degeneration

    She presented with visual distortion in her right eye and was found to have a retinal pigment epithelial detachment (RPED) on optical coherence tomography (OCT).[ncbi.nlm.nih.gov] Polyps appears as round multiple heterogeneous hyperreflective structures. Figure 29. SS-OCT and en-face OCT of a patients with late AMD with geography atrophy.[amdbook.org] To evaluate hyperreflective linear structures (HLS), as assessed using spectral-domain optical coherence tomography (SD-OCT), identified under the retinal pigment epithelium[ncbi.nlm.nih.gov]

  • Aarskog Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[ncbi.nlm.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] Eye abnormalities and vision problems like brushfield spots, abnormal retinal pigmentation, optic disk pallor, glaucoma and cataract occur as well.[ic.steadyhealth.com]

  • Barth Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org] Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents[nicklauschildrens.org]

  • Gardner Syndrome

    BACKGROUND: It has been recently documented that multiple bilateral pigmented lesions at the level of the retinal pigment epithelium may be an indicator of patients with familial[ncbi.nlm.nih.gov] Epidermoid cysts commonly occur on the back, face, and chest, and communicate with the skin through a small, round, keratin-filled plug ( Figure 17 ).[aafp.org] Recently, multiple and bilateral patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in three families with classical GS.[ncbi.nlm.nih.gov]

  • Kearns Sayre Syndrome

    The triad of progressive external ophthalmoplegia, atypical retinal pigmentation and cardiac conduction defects characterizes Kearns-Sayre syndrome (KSS), which is most often[ncbi.nlm.nih.gov] Her face was an unexpressed-rounded and greasy one with an incomplete palpebral ptosis bilaterally (Figure 1), the nails and teeth were normal She was very thin owing to generalized[ispub.com] Abstract Kearns-Sayre syndrome (KSS) is characterized by external ophthalmoplegia, retinal pigmentation and cardiac conduction defects due to mitochondrial DNA (mtDNA) deletions[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com] Retinal pigment epithelial atrophic changes were documented in two (11%) patients with MPS IH Hurler, five (56%) patients with MPS IH/S Hurler/Scheie ( Figure 4 ), and two[nature.com] pigment epithelial changes suggestive of retinopathy in a significant proportion of MPS IH/S Hurler/Scheie (56%) and MPS IS Scheie patients (66%).[nature.com]

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