Inheritance - congenital achromatopsia is transmitted in an autosomal-recessive trait Presentation - patients present in early childhood with nystagmus, abnormal visual behaviour or photophobia. Acuity is less than 20/200. [patient.info]

Abnormal electrooculographic (EOG) findings are universally present in patients with Best's disease regardless of the clinical presentation, and are thus decisive in the differential diagnosis. [reviewofophthalmology.com]

Patients with any pattern dystrophy of the RPE may present with drusen-like deposits and pigmentary changes. [optometricmanagement.com]

While Stargardt’s disease typically presents in the first or second decades, multifocal pattern dystrophy presents in the fourth to sixth decades. Effect on vision. [reviewofoptometry.com]

Nov, 2015 Presented by Ananda Kalevar, MD A 60 year-old woman presents with decreased vision in the left eye. A B Figures 1A-B: Color fundus photographs of the right (A and C) and left (B and D) eyes. [westcoastretina.com]

• Surgical Procedure

  View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery. [books.google.com]

  Retinal Perforations, Breaks Surgical Procedures and Postoperative Cases Toxic Retinopathies; see also Light Toxicitiy Trauma (Injury) Tumors, Neoplasma Vascular Diseases (see also: Systemic Immunologic Diseases) Sclera Strabismus, Ocular Motility Disorders [atlasophthalmology.net]

• Developmental Delay

  […] tumor Macrophagic myofasciitis Macrosomia-microphthalmia-cleft palate syndrome Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome Macrostomia Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia-lymphedema-developmental [orpha.net]

• Swelling

  Treament with anti-vegf therapy has shown to decrease macular swelling and improve visual acuity. [38] Treatment of CNV with PDT should be considered with caution as vitilleform lesions treated with PDT without any components of CNV may have a negative [eyewiki.aao.org]

• Peripheral Vision Loss

  The extent and rate of vision loss vary greatly among individuals with juvenile retinoschisis. Central vision is almost always affected. Peripheral vision loss occurs in about half of all cases. [retinaaustraliansw.com.au]

• Blister

  The spaces created by the separated layers are often filled with blisters and ruptured blood vessels that can leak blood into the vitreous body (the transparent, colourless mass of jelly-like material filling the centre of the eye). [retinaaustraliansw.com.au]

[More] Chapter This chapter describes workup of a case of pterygium. Any patient presenting with pterygium should be worked up thoroughly before being planned for surgical excision. [jaypeedigital.com]

[…] symmetrical findings and shows as scattered, yellow, triradiate, fleck-like lesions in the posterior pole and arcades in the fundus. 3,5,11 The following report will discuss a case of multifocal pattern dystrophy, the differentials to consider, additional workup [reviewofoptometry.com]

Treatment Treatment Options: No treatment is available for the macular disease but low vision aids should be considered for appropriate individuals. [disorders.eyes.arizona.edu]

Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.com]

Because of the bilateral subfoveal localization no laser treatment was advised. Usually, good visual acuity is maintained in this uncommon inherited macular disease. However, acute visual loss can be caused by the ingrowth of subretinal new vessels. [ncbi.nlm.nih.gov]

(click here for Inheritance Pattern) TREATMENT At this time, there is no treatment for juvenile retinoschisis. However, in some cases, surgery can repair retinal detachments. [retinaaustraliansw.com.au]

Prognosis - there is no progression. [patient.info]

[…] anatomy, image, images, inherited, insect, insecta, invertebrate, isan, life science, medical device, medical equipment, medical imaging, medical science, medical test, medicine, ophthalmoscope, organism, person, physics, pigment, positive, procedure, prognosis [medicalimages.com]

These entities typically occur in midlife and carry a good visual prognosis in at least one eye. [reviewofophthalmology.com]

This delineation is key because of the better visual prognosis associated with multifocal pattern dystrophy. A better prognosis is also found with multifocal pattern dystrophy when compared with basal laminar drusen. [reviewofoptometry.com]

The prognosis for pattern dystrophies is good, with patients maintaining reading-level vision in at least one eye throughout the remainder of their life. 3 This patient has not yet returned to the clinic. OM References available upon request. [optometricmanagement.com]

Clinical course, genetic etiology and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012;119(4):819-826. Zhang K, Nguyen T H, Crandall A, et al. Genetic and molecular studies of macular dystrophies; recent developments. [healio.com]

They are characterized predominantly by changes in the posterior pole of genetic etiology, and are often bilateral and symmetrical. [atlasrleye.com]

Both are characterized by irregular-shaped, triradiate, yellow, fleck-like lesions of variable size and shape within the posterior pole and concentrate around the retinal vascular arcades. 3,18 While the two conditions are quite similar in terms of etiology [reviewofoptometry.com]

Etiology The PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. [eyewiki.aao.org]

This phenotype also shares with AMD several epidemiological, clinical, and histopathological features. [reviewofophthalmology.com]

Relevant External Links for PRPH2 Genetic Association Database (GAD) PRPH2 Human Genome Epidemiology (HuGE) Navigator PRPH2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PRPH2 No data available for Genatlas for PRPH2 Gene Phenotypic [genecards.org]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.com]

Novel diagnostic tools such as fundus autofluorescence imaging have led to an increasing understanding of pathophysiologic mechanisms in retinal degeneration. [reviewofophthalmology.com]

Nicholson B, Noble J, Forooghian F, Meyerle C (2013) Central serous chorioretinopathy: update on pathophysiology and treatment. SurvOphthalmol 58: 103-126. [omicsonline.org]

[…] the pathophysiology of the various pattern dystrophies. [eyewiki.aao.org]

Ongoing genetic research continues to change the understanding of pathophysiology. Stargardt's disease and fundus flavimaculatus [ 3 ] There has been some question as to whether this condition is two diseases or one. [patient.info]

Like other forms of conjunctival autografting, the objective is to prevent abnormal conjunctiva and fibrovascular tissue from encroaching on the cornea and result... [jaypeedigital.com]

At present, there are no treatment modalities to prevent disease progression. [atlasrleye.com]

Next, this gene will be identified and its function in the retina determined as the first step in developing means of treatment and prevention. [retinaaustraliansw.com.au]

It also holds the promise of enabling clinicians to provide better risk assessments and develop and selectively deploy new therapeutics to either prevent or slow the disease and reduce the threat of vision loss. [healio.com]