Create issue ticket

4,980 Possible Causes for Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium, Mutation in the TTLL5 Gene, Rapid Progression

  • Neuronal Ceroid Lipofuscinosis 4B

    Infantile and late-infantile retinal findings include fine retinal pigment epithelium pigment atrophy with no bone spicule changes and disk pallor.[journals.lww.com] […] deterioration of vision and a slower, but progressive deterioration of intellect.[patient.info] Juvenile retinal findings include macular retinal pigment epithelium atrophy and pigment stippling ( 50%), epiretinal membrane (33%), bull’s eye maculopathy (25%), and peripheral[journals.lww.com]

    Missing: Mutation in the TTLL5 Gene
  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    Disease progression was rapid, and the majority of patients died from respiratory failure within 1–5 years after onset of disease.[link.springer.com] Hereditary pure lower motor neuron disease with adult onset and rapid progression. J Neurol 2001 ; 248 : 290 –96.[academic.oup.com] Wokke Abstract We describe three members each of two families presenting with a hereditary form of lower motor neuron disease with adult onset and rapid progression and compare[link.springer.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Alpers Syndrome

    Valproic acid, however, has been shown to cause a rapid progression of liver failure in patients with AHS.[statpearls.com] Alpers syndrome is a progressive encephalopathy of early onset, characterized by rapid and severe developmental delay, intractable seizures and liver involvement in a previously[ncbi.nlm.nih.gov] Loss of cognitive function progresses with varying rates (rapid regression seen during infectious diseases) with manifestations including somnolence, irritability, loss of[orpha.net]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Limb-Girdle Muscular Dystrophy Type 2C

    Progression is rapid, and patients are usually wheelchair-bound in adolescence.[sema4genomics.com] DMD is the most severe form of muscular dystrophy and it is characterized as follows1: Rapid progression of muscle weakness, often with calf hypertrophy Decreased levels of[centogene.com] The more common LGMD2 generally has an earlier age of onset, worse symptoms and more rapid progression compared to LGMD1.[chs-journal.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Creutzfeldt Jakob Disease

    This case exemplifies the difficulty of a timely diagnosis when rapid progressive dementia is masked by concomitant factors (i.e., head trauma) and neurological signs are[ncbi.nlm.nih.gov] Following admission, she had rapid cognitive decline and developed florid and progressive neurological signs; a diagnosis of prion disease was suspected.[ncbi.nlm.nih.gov] A 75-year-old woman was admitted due to rapid progressive cognitive impairment. Her husband observed a temporal disorientation and confusion.[ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Autosomal Recessive Parkinson Disease 14

    […] disease progression.[acnr.co.uk] The disorder is characterized by progressive involuntary, rapid, jerky motions and mental deterioration.[encyclopedia.com] Patients with late forms of the disease associated with rapid progression, weight loss and respiratory failure should prompt screening of the DCTN1 gene associated with Perry[acnr.co.uk]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Amyotrophic Lateral Sclerosis Type 10

    It is possible that the severity and the rapid progression of the ALS hamper the detection of extrapyramidal signs.[link.springer.com] Cross sectional correlation of NF levels with ALSFRS-R scores and comparison between patients with rapid progression and ones with slow progression were also mentioned in[journals.plos.org] The novel p.Gly376Asp TARDBP mutation is associated with rapid disease progression and may be associated with an accessory nipple while the p.Asn352Ser mutation is associated[karger.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Peripheral Vasoproliferative Retinopathy

    The most characteristic ophthalmoscopic findings are narrowing of the retinal arterioles, mottling of the retinal pigment epithelium, and peripheral retinal pigment clumping[oculist.net] Pregnancy can be associated with a rapid progression of DR, particularly if: [ 5 ] There is severe baseline retinopathy.[patient.info] Successful surgical management of retinopathy of prematurity showing rapid progression despite extensive retinal photocoagulation.[ijo.in]

    Missing: Mutation in the TTLL5 Gene
  • Fatal Familial Insomnia

    Here we describe an unusually early onset and rapid progression of FFI associated with dorsal midbrain involvement in a female patient with PRNP mutation at codon 178 and[ncbi.nlm.nih.gov] progressive dementia.[jnnp.bmj.com] […] disease progression make it difficult to diagnose FFI.[journals.lww.com]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene
  • Secondary Sclerosing Cholangitis

    This is the first report of rapid progression of acute suppurative cholangitis to secondary sclerosing cholangitis sequentially followed-up by endoscopic retrograde cholangiography[ncbi.nlm.nih.gov] Sclerosing cholangitis in critically ill patients, in particular, is associated with rapid disease progression and poor outcome.[ncbi.nlm.nih.gov] progression to cirrhosis.[ncbi.nlm.nih.gov]

    Missing: Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Mutation in the TTLL5 Gene

Similar symptoms