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12 Possible Causes for Early Salt and Pepper Retinopathy

  • Homocystinuria

    RESULTS: A maculopathy associated with both photopic and scotopic abnormal ERG was present in two cases and a salt and pepper retinopathy with abnormal photopic ERG was detected[ncbi.nlm.nih.gov] CONCLUSIONS: Despite early treatment and regular metabolic controls, all our patients exhibited both retinal and ERG abnormalities.[ncbi.nlm.nih.gov]

  • Congenital Rubella Syndrome

    Ocular examination revealed bilateral salt-and-pepper retinopathy and a serous detachment in the macula of the left eye.[ncbi.nlm.nih.gov] Fluorescein angiography showed an early "smoke-stack" pattern of hyperfluorescence with progressive filling of the subretinal space consistent with central serous chorioretinopathy[ncbi.nlm.nih.gov]

  • Central Serous Chorioretinopathy

    Ocular examination revealed bilateral salt-and-pepper retinopathy and a serous detachment in the macula of the left eye.[ncbi.nlm.nih.gov] Fluorescein angiography showed an early "smoke-stack" pattern of hyperfluorescence with progressive filling of the subretinal space consistent with central serous chorioretinopathy[ncbi.nlm.nih.gov]

  • Late Congenital Syphilis

    ., glaucoma , salt and pepper retinopathy) Cochlear defect bilateral sensorineural hearing loss Cardiac defect (most common defects: patent ductus arteriosus , pulmonary artery[amboss.com] […] stenosis) Additional non-specific clinical features Early Hepatosplenomegaly , jaundice Hemolytic anemia , thrombocytopenia Petechiae and purpura ( blueberry muffin rash[amboss.com]

  • Fetal Cytomegalovirus Syndrome

    ., glaucoma , salt and pepper retinopathy) Cochlear defect bilateral sensorineural hearing loss Cardiac defect (most common defects: patent ductus arteriosus , pulmonary artery[amboss.com] […] stenosis) Additional non-specific clinical features Early Hepatosplenomegaly , jaundice Hemolytic anemia , thrombocytopenia Petechiae and purpura ( blueberry muffin rash[amboss.com]

  • Congenital Enterovirus Infection

    ., glaucoma , salt and pepper retinopathy) Cochlear defect bilateral sensorineural hearing loss Cardiac defect (most common defects: patent ductus arteriosus , pulmonary artery[amboss.com] […] stenosis) Additional non-specific clinical features Early Hepatosplenomegaly , jaundice Hemolytic anemia , thrombocytopenia Petechiae and purpura ( blueberry muffin rash[amboss.com]

  • Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome

    ., glaucoma , salt and pepper retinopathy) Cochlear defect bilateral sensorineural hearing loss Cardiac defect (most common defects: patent ductus arteriosus , pulmonary artery[amboss.com] […] stenosis) Additional non-specific clinical features Early Hepatosplenomegaly , jaundice Hemolytic anemia , thrombocytopenia Petechiae and purpura ( blueberry muffin rash[amboss.com]

  • Congenital Herpes Simplex

    ., glaucoma , salt and pepper retinopathy) Cochlear defect bilateral sensorineural hearing loss Cardiac defect (most common defects: patent ductus arteriosus , pulmonary artery[amboss.com] […] stenosis) Additional non-specific clinical features Early Hepatosplenomegaly , jaundice Hemolytic anemia , thrombocytopenia Petechiae and purpura ( blueberry muffin rash[amboss.com]

  • Formiminotransferase Deficiency

    : Feeding difficulties, hypotonia/hypertonia, lethargy Abnormal movement, seizures Multisystemic involvement Pancytopenia or megaloblastic anemia Salt-and-pepper retinopathy[slideplayer.com] […] bl Co(I)bl cblB AdoCbl Cell membrane Methylmalonyl-CoA Succinyl-CoA Methylmalonyl-CoA mutase mut Mitochondrion 79 cblC Most common inborn error of Vitamin B12 metabolism Early-onset[slideplayer.com]

  • Mitochondrial DNA Deletion Syndrome with Progressive Myopathy

    The retinopathy usually affects the posterior fundus and has a salt-and-pepper appearance with diffuse depigmentation of the retinal epithelium.[annsaudimed.net] Ptosis is usually the presenting symptom and starts as early as age two. Ophthalmoplegia affects all muscles equally and never involves the pupils.[annsaudimed.net]

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