Rod-cone dystrophy, and Scarring

Diseases related with Rod-cone dystrophy and Scarring

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Scarring that can help you solving undiagnosed cases.


Top matches:

Medium match MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY


Patterned macular dystrophy-3 (MDPT3), also called Martinique crinkled retinal pigment epitheliopathy, appears in the fourth or fifth decade of life and is characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina. Polypoid choroidal vasculopathy, choroidal neovascularization, or atrophic fibrous macular scarring can cause reduced visual acuity after age 50. Late-stage MDPT3 consists of a retinitis pigmentosa (RP; see {268000})-like phenotype due to death of retinal pigment epithelium (RPE) and photoreceptor cells. The dry desert land pattern observed on fundus examination corresponds to an irregular thickness of the Bruch membrane and the RPE, with a scalloped elevation ('crinkling') of the RPE observed on optical coherence tomography (OCT). Full-field electroretinography may be normal at preclinical and early stages of the dystrophy, but later cone and rod responses are severely reduced, consistent with progressive photoreceptor cell dysfunction and death at the final state (summary by Meunier et al., 2016).For a general phenotypic description and discussion of genetic heterogeneity of patterned macular dystrophy, see MDPT1 (OMIM ).

MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY Is also known as mcrpe|martinique crinkled retinal pigment epitheliopathy

Related symptoms:

  • Visual loss
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Scarring
  • Macular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY

Medium match LATE-ONSET RETINAL DEGENERATION


Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.

LATE-ONSET RETINAL DEGENERATION Is also known as lord|autosomal dominant late-onset retinal degeneration|retinal degeneration, late-onset, autosomal dominant

Related symptoms:

  • Blindness
  • Visual loss
  • Rod-cone dystrophy
  • Scarring
  • Retinopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LATE-ONSET RETINAL DEGENERATION

Medium match CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1


X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors (Demirci et al., 2002). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings (Hong et al., 1994). Genetic Heterogeneity of X-linked Cone-Rod DystrophyAdditional forms of X-linked cone-rod dystrophy include CORDX2 (OMIM ), mapped to chromosome Xq27, and CORDX3 (OMIM ), caused by mutation in the CACNA1F gene (OMIM ) on chromosome Xp11.23.For a discussion of autosomal forms of cone-rod dystrophy, see CORD2 (OMIM ).

CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 Is also known as cone dystrophy 1, x-linked|cod1

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Abnormality of metabolism/homeostasis
  • Rod-cone dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1

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Other less relevant matches:

Medium match MACULAR DYSTROPHY, PATTERNED, 1; MDPT1


Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see {268000})-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012).Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see {179840} and {267800}), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea. Genetic Heterogeneity of Patterned Macular DystrophyAlso see MDPT2 (OMIM ), caused by mutation in the CTNNA1 gene (OMIM ) on chromosome 5q31; and MDPT3 (OMIM ), caused by mutation in the MAPKAPK3 gene (OMIM ) on chromosome 3p21.

MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 Is also known as patterned dystrophy of retinal pigment epithelium|macular dystrophy, butterfly-shaped pigmentary|butterfly dystrophy of retinal pigment epithelium

Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Photophobia
  • Scarring
  • Nyctalopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACULAR DYSTROPHY, PATTERNED, 1; MDPT1

Medium match RETINITIS PIGMENTOSA 36; RP36


Related symptoms:

  • Cataract
  • Edema
  • Rod-cone dystrophy
  • Pallor
  • Scarring


SOURCES: MESH OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 36; RP36

Medium match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Medium match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Medium match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Scarring

Symptoms // Phenotype % cases
Visual loss Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Retinal dystrophy Uncommon - Between 30% and 50% cases
Retinal degeneration Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Scarring. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nyctalopia Blindness Cataract Macular degeneration Macular scar Global developmental delay Photophobia Ataxia Abnormality of the kidney Cone/cone-rod dystrophy Abnormal retinal morphology Recurrent urinary tract infections Stage 5 chronic kidney disease Nephropathy Hepatic fibrosis Renal insufficiency Choroidal neovascularization Reduced visual acuity Progressive visual loss Macular atrophy Short stature Retinopathy

Rare Symptoms - Less than 30% cases


Hearing impairment Sensorineural hearing impairment Fatigue Hypermetropia Anemia Weight loss Renal cyst Involuntary movements Renal dysplasia Hypertension Vomiting Severe sensorineural hearing impairment Abnormality of retinal pigmentation Seizures Pyelonephritis Polydactyly Pneumonia Depressivity Respiratory insufficiency Short neck Hepatomegaly Cognitive impairment Exudative retinopathy Polydipsia Congenital hepatic fibrosis Tubulointerstitial nephritis Peripheral visual field loss Nephronophthisis Diabetes insipidus Polyuria Cone-shaped epiphysis Nephritis Intellectual disability Nausea Bull's eye maculopathy Horizontal nystagmus Optic disc pallor Abnormality of skin pigmentation Retinal atrophy Abnormal facial shape Pallor Depressed nasal bridge Chorioretinal atrophy Geographic atrophy Macular dystrophy Achromatopsia Attenuation of retinal blood vessels Bronchitis Glycosuria Glomerulopathy Hyperuricemia Increased number of teeth Hypercholesterolemia Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Pericardial effusion Truncal obesity Type II diabetes mellitus Urinary urgency Hydroureter Epidermal acanthosis Subcapsular cataract Insulin-resistant diabetes mellitus Pericarditis Gingivitis Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Pendular nystagmus Ketoacidosis Thoracic scoliosis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Emphysema Hypoventilation Autoimmune thrombocytopenia Pulmonary fibrosis Acne Glucose intolerance Hypogonadotrophic hypogonadism Gynecomastia Short toe Cholelithiasis Hypergonadotropic hypogonadism Recurrent pneumonia Myocardial fibrosis Increased body weight Generalized hirsutism Nephrocalcinosis Sinusitis Abnormality of the hand Absence seizures Accelerated skeletal maturation Acanthosis nigricans Atherosclerosis Hyperlipidemia Pancreatitis Polycystic ovaries Goiter Elevated alkaline phosphatase Hyperpigmentation of the skin Pulmonary arterial hypertension Aplasia/Hypoplasia of the cerebellum Hyperglycemia Hyperostosis Hypertriglyceridemia Tachypnea Impaired vibratory sensation Constriction of peripheral visual field Recurrent otitis media Left ventricular hypertrophy Obsessive-compulsive behavior Decreased liver function Chronic otitis media Portal hypertension Thickened skin Lipodystrophy Chronic diarrhea Anorexia Insulin resistance Hyperinsulinemia Precocious puberty Male hypogonadism Chronic infection Chronic fatigue High-frequency sensorineural hearing impairment Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Increased circulating androgen level Childhood-onset truncal obesity Unilateral breast hypoplasia Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Dilatation of the bladder Glue ear Renovascular hypertension Glaucoma Corneal scarring Miosis Buphthalmos Congenital glaucoma Chorioretinal coloboma Retinal detachment Iris coloboma Coloboma Microphthalmia Recurrent cystitis Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Squared iliac bones Albuminuria Chronic obstructive pulmonary disease Abnormal renal physiology Chills Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Disinhibition Urethral stenosis Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Acute pancreatitis Hepatic encephalopathy Abnormal muscle tone Hepatitis Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Abnormal spermatogenesis Abnormality of female external genitalia Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Multinodular goiter Cardiomegaly Myalgia Pigmentary retinopathy Prominent forehead Craniosynostosis Wide mouth Low-set, posteriorly rotated ears Cleft lip Umbilical hernia Skeletal dysplasia High forehead Upslanted palpebral fissure Posteriorly rotated ears Oral cleft Hernia Hypoplasia of the corpus callosum Frontal bossing Wide nasal bridge Brachydactyly Epicanthus High palate Micrognathia Smooth philtrum Short distal phalanx of finger Microcephaly Short ribs Scaphocephaly Prominent metopic ridge Acute kidney injury Short thorax Short femoral neck Trigonocephaly Widely spaced teeth Cutis laxa Wide anterior fontanel Postaxial polydactyly Exotropia Short phalanx of finger Cholestasis Sparse scalp hair Narrow forehead Microdontia Bifid uvula Macroglossia Delayed eruption of teeth Hypertelorism Multiple small medullary renal cysts Cone-shaped epiphyses of the phalanges of the hand Cone dysfunction syndrome Undetectable electroretinogram Edema Reticular retinal dystrophy Dark choroid Metamorphopsia Abnormality of macular pigmentation Blue cone monochromacy Progressive cone degeneration Abnormality of color vision Bone spicule pigmentation of the retina High myopia Abnormality of metabolism/homeostasis Myopia Sub-RPE deposits Adult-onset night blindness Drusen Scotoma Abnormal electroretinogram Macular edema Generalized hypotonia Azotemia Abnormality of the skeletal system Abnormality of bone mineral density Tapetoretinal degeneration Retinal dysplasia Congenital blindness High hypermetropia Premature ovarian insufficiency Chronic kidney disease Incoordination Molar tooth sign on MRI Ptosis Oculomotor apraxia Multicystic kidney dysplasia Cerebellar vermis hypoplasia Apraxia Highly arched eyebrow Telecanthus Hydronephrosis Anteverted nares Low-set ears Recurrent lower respiratory tract infections Thoracic dysplasia Cyanosis Respiratory tract infection Ophthalmoplegia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Sparse hair Abnormality of the liver Autistic behavior Postnatal growth retardation Carious teeth Irritability Proteinuria Conductive hearing impairment Elevated hepatic transaminase Deeply set eye Jaundice Hepatosplenomegaly Pes planus Pulmonic stenosis Delayed puberty Gastroesophageal reflux Asthma Specific learning disability Decreased testicular size Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Abdominal distention Infertility Ascites Sleep disturbance Hepatic steatosis Hirsutism Hepatic failure Tachycardia Cirrhosis Lymphadenopathy Dry skin Kyphoscoliosis Dyspnea Cholangitis Strabismus Cardiomyopathy Respiratory distress Optic atrophy Peripheral neuropathy Motor delay Delayed speech and language development Feeding difficulties Pain Failure to thrive Abnormality of the dentition Growth delay Scoliosis Absence of renal corticomedullary differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Frontal upsweep of hair Accessory oral frenulum Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congestive heart failure Behavioral abnormality Hypothyroidism Recurrent respiratory infections Autism Hyperkeratosis Respiratory failure Abdominal pain Diabetes mellitus Hypogonadism Hyperhidrosis Myoclonus Alopecia Dystonia Constipation Hyporeflexia Patent ductus arteriosus Clinodactyly Encephalopathy Obesity Dilatation Kyphosis Splenomegaly Optic nerve dysplasia



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