Microphthalmia, and Nyctalopia

Diseases related with Microphthalmia and Nyctalopia

In the following list you will find some of the most common rare diseases related to Microphthalmia and Nyctalopia that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011).

MICROPHTHALMIA, ISOLATED 6; MCOP6 Is also known as microphthalmia, posterior nonsyndromic

Related symptoms:

  • Strabismus
  • Cataract
  • Blindness
  • Microphthalmia
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 6; MCOP6

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.

MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME Is also known as nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Blindness
  • Microphthalmia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME

Medium match MRCS SYNDROME

MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

MRCS SYNDROME Is also known as microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|vitreoretinochoroidopathy, autosomal dominant|advirc|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MRCS SYNDROME

Other less relevant matches:

Medium match REFSUM DISEASE

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Medium match COHEN SYNDROME; COH1

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.

FGFR2-RELATED BENT BONE DYSPLASIA Is also known as perinatal lethal bent bone dysplasia

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FGFR2-RELATED BENT BONE DYSPLASIA

Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.

CONGENITAL STATIONARY NIGHT BLINDNESS Is also known as hemeralopia-myopia|myopia-night blindness|night blindness, congenital stationary, with myopia|csnb, complete, x-linked|nbm1|congenital essential nyctalopia

Related symptoms:

  • Nystagmus
  • Strabismus
  • Myopia
  • Blindness
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL STATIONARY NIGHT BLINDNESS

Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

STARGARDT DISEASE Is also known as fundus flavimaculatus|stargardt 1

Related symptoms:

  • Reduced visual acuity
  • Nyctalopia
  • Macular degeneration
  • Abnormality of color vision
  • Central scotoma


SOURCES: ORPHANET MENDELIAN

More info about STARGARDT DISEASE

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

X-LINKED RECESSIVE OCULAR ALBINISM Is also known as ocular albinism type 1|ocular albinism, nettleship-falls type|nettleship-falls type ocular albinism|oa1|xloa

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED RECESSIVE OCULAR ALBINISM

Top 5 symptoms//phenotypes associated to Microphthalmia and Nyctalopia

Symptoms // Phenotype % cases
Strabismus Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Nyctalopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Myopia Cataract Astigmatism Hypermetropia High myopia Abnormality of skin pigmentation Retinopathy Short metacarpal Progressive visual loss Retinal dystrophy Abnormality of color vision Short stature Abnormal facial shape Cone/cone-rod dystrophy Photophobia Hypopigmentation of the skin Rod-cone dystrophy Abnormality of macular pigmentation Intellectual disability High hypermetropia Shallow anterior chamber Microcornea Retinal degeneration Glaucoma

Rare Symptoms - Less than 30% cases

Gingival overgrowth Skeletal dysplasia Ichthyosis Abnormality of retinal pigmentation Exotropia Cardiomyopathy Ptosis Muscular hypotonia Sensorineural hearing impairment Malar flattening Micrognathia Congenital stationary night blindness Iris hypopigmentation Hypertelorism Retinal thinning Scoliosis Growth delay Brachydactyly Visual loss Postnatal growth retardation Bowing of the legs Hemeralopia Cone dysfunction syndrome Peripheral visual field loss Thoracic scoliosis Moderate myopia Failure to thrive Scleral thickening Retinal atrophy Macular edema Hearing impairment Congenital cataract Bone spicule pigmentation of the retina Retinal pigment epithelial atrophy Cystoid macular edema Abnormality of the skeletal system Edema Abnormality of the eye Retinal detachment Pigmentary retinopathy Abnormal retinal morphology Macular atrophy Amblyopia Lumbar hyperlordosis Macular hypoplasia Abnormal macular morphology Disproportionate tall stature Neutropenia Truncal obesity Abnormality of the hip bone Narrow nasal bridge Celiac disease Weak cry Subcapsular cataract Hiatus hernia Posterior subcapsular cataract Gingivitis Microglossia Vocal cord paralysis Hypopigmentation of the fundus Prominent nose Tapered finger Macrodontia Iris atrophy Abnormal pupil morphology Thick hair Tapetoretinal degeneration Highly arched eyebrow Single transverse palmar crease Facial hypotonia Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Furrowed tongue Deep venous thrombosis Misalignment of teeth Hypoplasia of the maxilla Cerebral hemorrhage Decreased fetal movement Venous thrombosis Open mouth Clumsiness Tall stature Long eyelashes Mitral valve prolapse Nystagmus-induced head nodding Giant melanosomes in melanocytes Progressive microcephaly Preauricular skin tag Low anterior hairline Narrow forehead Intellectual disability, progressive Sandal gap Leukopenia Recurrent skin infections Abnormality of dental morphology Bull's eye maculopathy Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Convex nasal ridge Growth hormone deficiency Aciduria Short metatarsal Reduced number of teeth Laryngomalacia Otitis media Abnormal foveal morphology Ocular albinism Granulocytopenia Hypoplastic pubic bone Abnormality of the periosteum Incomplete ossification of pubis Steep acetabular roof Metopic depression Overfolding of the superior helices Decreased calvarial ossification Hypoplastic ischia Esotropia Extramedullary hematopoiesis Lethal skeletal dysplasia Decreased skull ossification Neoplasm of the skin Abnormality of the lower limb Abnormally large globe Ophthalmoplegia External ophthalmoplegia Bell-shaped thorax Central scotoma Paroxysmal involuntary eye movements Aplasia/Hypoplasia of the macula Abnormal choroid morphology Retinal pigment epithelial mottling Yellow/white lesions of the macula Abnormality of visual evoked potentials Macular degeneration Falls Moderate hypermetropia Complete congenital stationary night blindness Hypertropia Abnormal fundus morphology Monochromacy Optic disc hypoplasia Coronal craniosynostosis Megalocornea Congenital neutropenia Chorioretinal dysplasia Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Hypoplasia of the fovea Thick corpus callosum High-pitched cry Narrow philtrum Cat cry Narrow palm Pendular nystagmus Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Hypoplastic philtrum Slender toe Short clavicles Clitoral hypertrophy Albinism Blurred vision Freckling High, narrow palate Congenital nystagmus Natal tooth Abnormality of the outer ear Low-set ears Short chin Hirsutism Craniosynostosis Hepatosplenomegaly Osteopenia Midface retrusion Small hand Diabetes mellitus Thick vermilion border Abnormality of epiphysis morphology Miosis Heart block Hemiplegia/hemiparesis Hammertoe Abnormality of vision Anosmia Nail dysplasia Hyperlordosis Dry skin Abnormality of the foot Abnormality of eye movement Abnormal pyramidal sign Developmental regression Pes cavus Severe short stature Joint stiffness Renal insufficiency Bowing of the long bones Femoral bowing Flared metaphysis Metaphyseal irregularity Metaphyseal widening Coxa vara Rhizomelia Recurrent otitis media Coloboma Abnormality of the ribs Limb undergrowth Waddling gait Dental malocclusion Short palm Platyspondyly Abnormality of metabolism/homeostasis Splenomegaly Short finger Asteroid hyalosis Hypertonia Macular thickening Foveoschisis Optic disc drusen Abnormal light- and dark-adapted electroretinogram Drusen Venous occlusion Dyschromatopsia Vascular tortuosity Retinal vascular tortuosity Retinal fold Increased intraocular pressure Deeply set eye Depressivity Chorioretinal atrophy Vitreous hemorrhage Intellectual disability, severe Chorioretinal hypopigmentation Respiratory insufficiency Skeletal muscle atrophy Peripheral neuropathy Ataxia Retinal arteriolar occlusion Abnormality of chorioretinal pigmentation Angle closure glaucoma Scleral staphyloma Optically empty vitreous Posterior staphyloma Peripheral retinal atrophy Retinal arteriolar constriction Retinal neovascularization Presenile cataracts Pulverulent cataract Tibial bowing Disproportionate short stature Iris coloboma Pes planus Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Arthritis Neonatal hypotonia Thin upper lip vermilion Retrognathia Protruding ear Kyphoscoliosis Macrotia Gastroesophageal reflux Mandibular prognathia Hypothyroidism Cerebellar hypoplasia Respiratory tract infection Paralysis Pectus excavatum Delayed puberty Thick eyebrow Joint hypermobility Arachnodactyly Smooth philtrum Joint hyperflexibility Genu valgum Synophrys Wide mouth Severe global developmental delay Neurological speech impairment Finger syndactyly Small for gestational age Prominent nasal bridge Short philtrum Stroke Clinodactyly of the 5th finger Obesity Beaking of vertebral bodies Decreased hip abduction Hypoplastic inferior ilia Tibial torsion Large central visual field defect Cupped ribs Severe platyspondyly Narrow greater sacrosciatic notches Limited elbow movement Global developmental delay Metaphyseal cupping Spondylometaphyseal dysplasia Enlarged joints Optic nerve coloboma Ectopia pupillae Ovoid vertebral bodies Seizures Generalized hypotonia Hernia Ventricular septal defect Thrombocytopenia Recurrent infections Dilatation Kyphosis Behavioral abnormality Respiratory distress Downslanted palpebral fissures Microcephaly Macrocephaly Optic atrophy Intrauterine growth retardation Depressed nasal bridge Motor delay High palate Cryptorchidism Depigmented fundus


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