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Cone rod dystrophy
22 OMIM references -
22 associated genes
106 connected diseases
7 signs/symptoms
Disease Type of connection
Retinitis pigmentosa
Leber congenital amaurosis
Congenital stationary night blindness
Stargardt disease
Central areolar choroidal dystrophy
Blue cone monochromatism
Meckel syndrome
Achromatopsia
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Retinal macular dystrophy type 2
Progressive cone dystrophy
Adult-onset foveomacular vitelliform dystrophy
Butterfly-shaped pigment dystrophy
Fundus albipunctatus
Idiopathic CD4 lymphocytopenia
Retinitis punctata albescens
Ã…land Islands eye disease
Senior-Loken syndrome
Amyotrophic lateral sclerosis
Cornelia de Lange syndrome
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Acute necrotizing encephalopathy of childhood
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Chronic myeloid leukemia
Multiple endocrine neoplasia type 1
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Joubert syndrome with orofaciodigital defect
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Severe combined immunodeficiency due to LCK deficiency
Spinocerebellar ataxia type 7
Truncus arteriosus
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Late-onset autosomal recessive medullary cystic kidney disease
NPHP3-related Meckel-like syndrome
Primary peritoneal carcinoma
Renal-hepatic-pancreatic dysplasia
Nestor-Guillermo progeria syndrome
Juvenile autosomal recessive medullary cystic kidney disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Distal monosomy 12p
Goldmann-Favre syndrome
Papillary or follicular thyroid carcinoma
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Alveolar soft-part sarcoma
B-cell chronic lymphocytic leukemia
Distal 22q11.2 microdeletion syndrome
Distal hereditary motor neuropathy type 2
Dyskeratosis congenita
Familial gastric cancer
Familial isolated dilated cardiomyopathy
Gastric linitis plastica
Hoyeraal-Hreidarsson syndrome
Inherited acute myeloid leukemia
Keratosis follicularis spinulosa decalvans
LIG4 syndrome
Lennox-Gastaut syndrome
Omenn syndrome
Punctate palmoplantar keratoderma type 1
Retinopathy - anemia- central nervous system anomalies
Translocation renal cell carcinoma
Young adult-onset Parkinsonism
Brugada syndrome
Timothy syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Griscelli disease type 2
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
17p13.3 microduplication syndrome
Bradyopsia
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Cystic fibrosis
Distal 17p13.3 microdeletion syndrome
Distal hereditary motor neuropathy type 7
Jeune syndrome
Junctional epidermolysis bullosa - pyloric atresia
Miller-Dieker syndrome
Perry syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
22 OMIM references -
No MeSH references
Very frequent
- Night blindness / hemeralopia
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Autosomal dominant inheritance
- Autosomal recessive inheritance

Occasional
- Mild visual loss / impaired visual acuity