The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. [ncbi.nlm.nih.gov]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Causes and risk factors There are various inheritance patterns that have been linked to RP, with more than 50 different genetic defects identified, all presenting with different levels of progression and symptoms. [lei.org.au]

These children often present with nystagmus as well. Dr. Drack noted that without electroretinogram testing or a genetic blood assay, the disorder can be confused with oculocutaneous albinism, which also presents with poor vision and nystagmus. [aao.org]

Additionally, in a past meeting presentation, it has been speculated that keratoconus is associated with severe obesity [24]. Teorically, idiopathic intracranial hypertension, and papilledema may also be associated with obesity [25]. [heighpubs.org]

• Malingering

  “There are no changes in the retina when Stargardt macular dystrophy first begins, so these children are often accused of malingering when they start to lose their vision,” Dr. Drack said. [aao.org]

• Night Blindness

  The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. [ncbi.nlm.nih.gov]

  Loss of side vision (otherwise known as ‘tunnel vision’) and the reduced ability to see at night (otherwise known as ‘night blindness’) are the first notable symptoms of RP. [lei.org.au]

  Clinical description SECORD occurs during childhood and covers patients with severe congenital night blindness, nystagmus, a significantly reduced visual acuity (less or equal than 0.3) along with a progressive panretinal dystrophy of diverse extent and [orpha.net]

  What’s important in correctly diagnosing congenital stationary night blindness? Often the ophthalmologist doesn’t see much wrong in the back of the eye in children with congenital stationary night blindness. [aao.org]

Macular degeneration treatments There is as yet no outright cure for age-related macular degeneration, but some treatments may delay its progression or even improve vision. [allaboutvision.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment There is currently no cure for RP, and no proven treatments are available to slow the progression of the disease. [lei.org.au]

The trial will use an adeno-associated virus vector to deliver the treatment and will be used first in adults. If the treatment proves safe, it will be expanded to cohorts of patients aged 8 to 18. [aao.org]

Prognosis The visual performance in bright light permits attendance at regular schools during the elementary years. Due to the genetic heterogeneity, a broad spectrum of progression exists that does not correlate with specific mutations. [orpha.net]

The expected prognosis of someone with RP is that the condition will continue at a very slow pace, with complete blindness being uncommon, but possible. RP commonly runs in families and is therefore an inherited condition. [lei.org.au]

“That’s why it’s so important to provide an accurate diagnosis and prognosis—so that families know what lies ahead of them.” [aao.org]

Etiology SECORD is genetically heterogeneous, being caused by many genes including those causing LCA (ABCA4 (1p22), ADAMTS18 (16q23), AIPL1 (17p13.1), BEST1 (11q12), CRB1 (1q31.3), CRX (19q13.3), GUCY2D (17p13.1), IMPDH1 (7q31.3-q32), IMPG1 (6q14.2-q15 [orpha.net]

Summary Epidemiology The prevalence is hard to predict as many SECORD patients have been previously diagnosed as Leber congenital amaurosis (LCA) patients. [orpha.net]

The Wisconsin Epidemiologic Study of Diabetic Retinopathy. Arch Intern Med. 1997;157:650–6. [PubMed] [Google Scholar] 114. Klein R, Klein BE, Moss SE, et al. The Wisconsin epidemiologic study of diabetic retinopathy. III. [ncbi.nlm.nih.gov]

Definitions, Classification, and Epidemiology of Obesity. [Updated 2018 Apr 12]. In: De Groot LJ, Chrousos G, Dungan K, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000. Web source. 2018. Ref.: . Web source. 2018. [heighpubs.org]

How can they be prevented? The genetic information contained in the DNA of every person determines whether a retinal dystrophy will develop, and, consequently, these hereditary conditions cannot be prevented. [imo.es]

Centers for Disease Control and Prevention (CDC), approximately 6.5 percent of Americans age 40 and older have some degree of macular degeneration. [allaboutvision.com]

XENical in the prevention of diabetes in obese subjects (XENDOS) study: a randomized study of orlistat as an adjunct to lifestyle changes for the prevention of type 2 diabetes in obese patients. Diabetes Care. 2004;27:155–61. [ncbi.nlm.nih.gov]

Weight control and physical activity in cancer prevention. Obes Rev. 2002; 3: 5-8. Ref.: Calle EE, Rodriguez C, Walker-Thurmond K, Thun MJ. Overweight, obesity, and mortality from cancer in a prospectively studied cohort of U.S adults. [heighpubs.org]