Retinal Abnormality: Causes & Reasons

Possible Causes for Retinal Abnormality

She has exophthalmos, strabismus, retinal abnormalities, and high myopia. [nature.com]

Ophthalmic features Strabismus and retinal abnormalities are common (50%), as are anterior chamber abnormalities (20%) and high myopia (33%). [nature.com]

Non-Syndromic Ocular Stickler Syndrome Type 1

In addition, older patients had a higher frequency of vitreous opacity, retinal abnormalities (lattice degeneration, retinal holes, and retinal detachment), and musculoskeletal [molvis.org]

(2 points maximum) 2 points 2 points Characteristic vitreous changes or retinal abnormalities Auditory abnormalities (2 points maximum) 2 points High frequency sensorineural [hkjpaed.org]

• Retinal degeneration. • Abnormal acquired retinal pigmentation. [medtextfree.wordpress.com]

Acute Zonal Occult Outer Retinopathy

Focal abnormalities of retinal structure correlated with vision loss in patients with AZOOR. [ncbi.nlm.nih.gov]

This can progress to show pigmentary changes in the fovea and corresponding outer retinal abnormalities on SD-OCT. Conclusions : AZOOR can be classified as 3 types. [iovs.arvojournals.org]

Abnormal retinal laminations were found in 12 eyes and were located over areas of loss of the photoreceptors. [ncbi.nlm.nih.gov]

Retinal Telangiectasia

There have been only two reports of retinal pigmentation abnormalities and a single case of bilateral macular deposits in KMS, but this is the first report of a Coats type [ncbi.nlm.nih.gov]

CONCLUSIONS: There have been only two reports of retinal pigmentation abnormalities and a single case of bilateral macular deposits in KMS, but this is the first report of [ndcn.ox.ac.uk]

For each patient studied, no retinal vascular abnormality was observed at the time of initial surgery. [ncbi.nlm.nih.gov]

Hypertensive Retinopathy

Given the lack of evidence linking mild retinal abnormalities with adverse outcomes, the NHBPEP recommendation for retinal examinations in hypertensive children should be [ncbi.nlm.nih.gov]

Scheie classification (1953) Staging under this system is as follows: Stage 0 – Diagnosis of hypertension but no visible retinal abnormalities Stage 1 – Diffuse arteriolar [rpcround.wordpress.com]

Future larger studies are needed to assess whether retinal digital photography and a simplified classification of retinal vascular abnormalities will improve the prediction [journals.lww.com]

Bloch Sulzberger Syndrome

People with retinal disorders that result from IP are more likely to have brain disorders, and babies with brain abnormalities are more likely to have the retinal abnormalities [emedicinehealth.com]

The authors describe the evolution of retinal vascular abnormalities, and, for the first time, document foveal hypoplasia (in 4 of their 13 patients). [ncbi.nlm.nih.gov]

The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary [ncbi.nlm.nih.gov]

Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

Barrier- and out flow abnormalities can lead to serous retinal detachment. [omicsonline.org]

Scleral thickening Anophthalmia Abnormality of retinal pigmentation Abnormal choroid morphology Abnormality of the retinal vasculature Abnormal anterior chamber morphology [mendelian.co]

Myopia Microphthalmia Nystagmus Optic atrophy Abnormality of retinal pigmentation • • • Back to: « Retinal degeneration-nanophthalmos-glaucoma syndrome References Source: [familydiagnosis.com]

Exudative Vitreoretinopathy Type 2

In many patients, retinal abnormalities do not affect vision. [orpha.net]

Ophthalmoscopy and super-wide panoramic fluorescein angiography revealed characteristic retinal vascular abnormalities in all cases, embracing supernumerous vascular branchings [ncbi.nlm.nih.gov]

Neuronal Ceroid Lipofuscinosis Type 10

Showing of 16 | 80%-99% of people have these symptoms Abnormal electroretinogram 0000512 Abnormality of the retinal vasculature Abnormality of retina blood vessels 0008046 [rarediseases.info.nih.gov]

Norrie Disease

ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. [ncbi.nlm.nih.gov]

If any retinal abnormality were identified, fundus photography and fluorescein angiography was performed. [ncbi.nlm.nih.gov]

It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. [doctor.am]

Knobloch Syndrome Type 1

Date Published: 2017 Apr Abstract: PURPOSE: We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in [eye.hms.harvard.edu]

The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. [mybiosource.com]

Specific findings include high myopia, vitreoretinal degeneration with retinal detachment, and macular abnormalities. [preventiongenetics.com]

Vitreoretinochoroidopathy

However, both of these BEST1-related conditions show retinal pigmentary abnormalities, retinal dystrophy, microcornea, and early-onset cataract, conditions that overlap and [orpha.net]

retinal morphology Abnormality of color vision Retinal atrophy Chorioretinal hypopigmentation Abnormality of chorioretinal pigmentation Retinal arteriolar occlusion Hypoplasia [mendelian.co]

The disease is characterized by annular peripheral hyperpigmentation, fibrillary condensation of the vitreous, breakdown of the blood–retina barrier, retinal vascular abnormalities [semanticscholar.org]

Snowflake Vitreoretinal Degeneration

Corneal guttae (4/5; 80%), early onset cataract (5/6; 83%), fibrillar vitreous degeneration (6/6; 100%), and peripheral retinal abnormalities (5/6; 83%), including minute [ncbi.nlm.nih.gov]

Corneal guttae (4/5; 80%), early onset cataract (5/6; 83%), fibrillar vitreous degeneration (6/6; 100%), and peripheral retinal abnormalities (5/6; 83%) including minute crystalline-like [iovs.arvojournals.org]

Retinal detachment was seen in 1 of 6 of these prospectively examined subjects (17%). [ncbi.nlm.nih.gov]

Stickler Syndrome Type 2

Here we show for the first time that a family with the full Type 2 Stickler syndrome including vitreous and retinal abnormalities is linked to the COL11A1 gene and characterise [ncbi.nlm.nih.gov]

[…] in eight, retinal detachment in 5, and no retinal abnormalities in 13 eyes. [omicsonline.org]

Extreme nearsightedness combined with retinal degeneration and abnormalities of the vitreous (the jelly-like material that fills the back of the eye), can lead to tears in [disorders.eyes.arizona.edu]

Occult Macular Dystrophy

Abstract Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. [ncbi.nlm.nih.gov]

Detailed retinal morphologic abnormalities were evaluated using spectral domain optical coherence tomography and infrared reflectance imaging. [ncbi.nlm.nih.gov]

RESULTS: All eyes showed abnormal outer retinal structures in the macula as assessed by SD-OCT. [ncbi.nlm.nih.gov]

Retinal Pigmentary Dystrophy

RESULTS: Funduscopic examination revealed abnormalities of retinal pigmentation in ten subjects (77%). [ncbi.nlm.nih.gov]

A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. [ncbi.nlm.nih.gov]

Retinal abnormalities manifest as congenital retinal blindness or retinitis pigmentosa. The gene most frequently mutated in Senior-Loken Syndrome is IQCB1/NPHP5. [atlasrleye.com]

Autosomal Dominant Oto-Spondylo-Megaepiphyseal Dysplasia

[…] in eight, retinal detachment in 5, and no retinal abnormalities in 13 eyes. [omicsonline.org]

Stickler initially described a family with a dom-inantly inherited pattern of high myopia, a high incidence of retinal detachment and abnormal epiphyseal development with [alpfmedical.info]

Characteristic vitreous changes or retinal abnormalities* (lattice degeneration, retinal hole, retinal detachment or retinal tear): 2 points Auditory High-frequency sensorineural [ncbi.nlm.nih.gov]

Wyburn-Mason Syndrome

Abstract Primitive retinal vascular abnormalities are benign conditions of the retinal circulation that comprise vascular tumors and telangiectasias. [karger.com]

(Iwata, 2015) Patients with Wyburn-Mason syndrome often have visual field abnormalities related to either retinal or intracranial abnormalities, with some thirty percent demonstrating [eye-pix.com]

Optical coherence tomography demonstrates cross-sections of abnormal retinal vessels. [euretina.org]

Acute Hypertensive Retinopathy

Retinal microvascular abnormalities and ten-year cardiovascular mortality. A population-based case-control study. Ophthalmology. 2003;110(5):933–40. [link.springer.com]

Retinal microvascular abnormalities and incident stroke: The Atherosclerosis Risk in Communities study. Lancet 2001;358:1134–40. 16. [reviewofophthalmology.com]

Retinal microvascular abnormalities and incident stroke: the Atherosclerosis Risk in Communities Study. Lancet. 2001;358:1134-1140. 59. [retinalphysician.com]

Branch Retinal Artery Occlusion

Rarely, blood clotting abnormalities or certain types of uveitis can predispose to the development of branch retinal vein occlusion. What is the risk to the other eye? [retinagroupofnewengland.com]

Artery Occlusion with Edema of Axonal Fibers Proximal to Embolus (Time Course over 4 Weeks, Colour Image, OCT, FFA) Case, Abnormal Retinal Artery, Occluded Case, Branch Artery [atlasophthalmology.net]

Afterwards, fundus appearance was improved, and retinal opacity and retinal vessel abnormality disappeared. Nine months later, her visual acuity improved to 1.5. [dovepress.com]

Stickler Syndrome

The significant retinal abnormality was incarceration of vitreous collagen within glial strands on the inner surface of an atrophic and gliotic detached retina. [ncbi.nlm.nih.gov]

abnormalities Auditory: high frequency sensorineural hearing loss, hypermobile tympanic membranes Skeletal: femoral head failure, radiographically demonstrated osteoarthritis [unmc.edu]

[…] in eight, retinal detachment in 5, and no retinal abnormalities in 13 eyes. [omicsonline.org]

Peripheral Vasoproliferative Retinopathy

[…] infarcts Intra-retinal microvascular abnormalities (IRMA): pre-neovascularization retinal vascular abnormalities Classification system The most commonly used classification [hkuelcn.med.hku.hk]

It is believed that hypoxia can cause an overexpression of vascular endothelial growth factor (VEGF) that can induce abnormal retinal angiogenesis. [pedclerk.bsd.uchicago.edu]

Primitive retinal vascular abnormalities: tumors and telangiectasias Ophthalmologica 2012;228:67-77. Gass JD. Cavernous hemanioma of the retina. [westcoastretina.com]

Retinal Edema

Many researchers have used OCT images to detect retinal abnormalities. [ncbi.nlm.nih.gov]

Both the clinical retinal appearance and the anatomic abnormalities observed on spectral domain optical coherence tomography resolved after successful liver transplant. [ncbi.nlm.nih.gov]

Background: Central retinal vein occlusion (CRVO) is a common retinal vascular abnormality associated with conditions such as hypertension, diabetes, glaucoma, and a wide [cochrane.org]

Arteriosclerotic Retinopathy

Retinal microvascular abnormalities and incident stroke: the Atherosclerosis Risk in Communities Study. Lancet. 2001;358:1134-1140. 59. [retinalphysician.com]

Abnormalities in these vessels are a major cause of retinopathy. Macular ischemia: small blood vessels capillaries close. [toughaydenhenry.adafire.org]

retinal veins and capillaries Dry retina: few haemorrhages rare oedema rare exudate multiple cotton wool spots flame-shaped haemorrhages visibly abnormal retinal arteries [slideshare.net]

Fleck Retina of Kandori

Symptoms via clinical synopsis from OMIM: 57 Eyes: fleck retina macula spared irregular variably-sized retinal flecks abnormal pigment epithelium mild night blindness Clinical [malacards.org]

33 HP:0012045 Symptoms via clinical synopsis from OMIM: 58 Eyes: fleck retina macula spared irregular variably-sized retinal flecks abnormal pigment epithelium mild night [malacards.org]

[…] dystrophy Macular degeneration Abnormal electroretinogram Heterogeneous Retinal atrophy Visual impairment Visual field defect Hearing impairment Macular atrophy Abnormal [mendelian.co]

Retinohepatoendocrinologic Syndrome

[…] dysplasia X linked Retinal telangiectasia hypogammaglobulinemia Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation deafness Retinitis pigmentosa-deafness [mindmappedia.com]

[…] telangiectasia hypogammaglobulinemia Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation deafness Retinitis pigmentosa Retinitis pigmentosa-deafness [fact-index.com]

[…] pigment abnormalities Radio-ulnar synostosis type 1 Radio-ulnar synostosis type 2 Radius absent anogenital anomalies Raine syndrome Ram-Ray Rambam Hasharon syndrome Rambaud [ssf.f15ijp.com]

Congenital Anomaly of the Retina

Punctata Albescens Pisciform Flecks in Stargardt Flavimaculatus Fundus Albipunctatus Congenital Rubella Retinopathy Candida Chorioretinitis Sarcoid Choroditis Abnormal Retinal [morancore.utah.edu]

Background : Coats disease is a retinal disease characterized by exudative retinal detachment due to abnormal retinal blood vessels. [pubfacts.com]

[…] congenital abnormalities or genetic syndrome. [jhu.pure.elsevier.com]

Aicardi's Syndrome

The absence of the corpus callosum and retinal abnormalities cannot be fixed, though infantile spasms can certainly be treated. [infantilespasmsproject.org]

Symptoms include the presence of retinal abnormalities, resulting in varying degrees of visual impairment to blindness, and seizures in the form of infantile spasms. [gofundme.com]

abnormalities, and seizures in the form of infantile spasms. [2] Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed [en.wikipedia.org]

Coats Plus Syndrome

[…] vascular abnormalities. [ncbi.nlm.nih.gov]

Cerebral cysts and calcifications with leukoencephalopathy and retinal vascular abnormalities are diagnostic hallmarks of cerebroretinal microangiopathy with calcifications [ncbi.nlm.nih.gov]

Aside from retinal involvement, abnormalities in the brain and osteopenia were seen, and life-threatening severe gastrointestinal bleeding and portal hypertension. [physiciansweekly.com]

Spasmus Nutans

Fundoscopic examination excluded macular/optic nerve hypoplasia and retinal abnormalities. Brain MRI was unremarkable (Figure). [n.neurology.org]