Conclusions: The initial presenting features of CERKL-related retinopathy are distinct and unusual. Recognition of this initial presenting phenotype can facilitate earlier molecular diagnosis and genetic counseling. [tandfonline.com]

CASE A 21 year-old Caucasian man presented with a complaint of nyctalopia. This symptom was already present in early childhood and had progressed with time. [scielo.br]

Another common characteristic of the phenotype was peripapillary preservation of the retina, which was present in 18 patients. [eurotimes.org]

Your child may benefit from specialized sunglasses (amber-tinted lenses), use of a brimmed hat while outdoors as well as shutting blinds while indoors if glare is present. [familyconnect.org]

The genetic cause for Leber congenital amaurosis in this patient is presently under investigation, AIPL1 being the strongest candidate. [medscape.com]

• Asymptomatic

  Females are often but not always asymptomatic, possibly due to random X inactivation. RPGR is a major gene responsible for ~70% of the XL- Retinitis pigmentosa (RP) cases. Currently, its contribution to the XL-CRD is unknown (Hamel. 2007. [preventiongenetics.com]

  FEVR cases are often overlooked due to its low prevalence, highly asymptomatic clinical course, and diversity of symptoms. Characteristically, it is bilateral but clinical findings may be asymmetric(33 Toomes C, Downey L. [scielo.br]

• Night Blindness

  Unlike RCD, which typically start with night blindness and progressive visual field constriction while central vision is preserved until late stages, CRD is characterized by a primary decrease in central vision leading to earlier legal blindness. [orpha.net]

  Night blindness is a later symptom, and most of those affected are legally blind by mid-adulthood. [medicinenet.com]

  People with CRD have trouble seeing small details, are highly sensitive to light, have reduced peripheral or central vision, experience blind spots, or have reduced vision at night (including night blindness). [esighteyewear.com]

  Results: Two young Saudi Arabian adults complained of worsening night blindness over the preceding few years, one of whom had been symptomatic since early childhood. [tandfonline.com]

  blindness; the inability to see well at night, or in poor light Extreme sensitivity to light; exposure to bright light causes discomfort or pain in the eyes 30 to 70 percent of people have: Abnormal color vision; the inability to see the difference between [lowvisionmd.org]

• Photophobia

  As well, for those with Cone Rod Dystrophy who experience photophobia, eSight permits users to adjust the brightness and contrast of the screens, meaning it is well-suited to people with light sensitivity. [esighteyewear.com]

  The mean age of onset of the retinopathy was 3.9 years and all patients had decreased best-corrected visual acuity from early childhood; 25 have night blindness; 10 have moderate photophobia; and 12 have nystagmus. [eurotimes.org]

  Cone-rod dystrophy typically manifests with loss of sharp visual acuity, which is not correctable with glasses, severe sensitivity to light (photophobia), central blind spots in the vision (scotomas), and progresses to poor vision in dimly lit environments [familyconnect.org]

  Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity) and abnormal sensitivity to light (photophobia). [rarediseases.info.nih.gov]

  Bioptic Driving with Achromatopsia or other Cone Dystrophies requires first solving the severe photophobia and dysability glare. Second, the color vision issues related to detection of traffic sign and signals must be resolved. [biopticdrivingusa.com]

• Scotoma

  Later symptoms include impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. [medicinenet.com]

  This can be followed by blind spots (scotomas) in the center of vision, impaired color vision (dyschromatopsia), loss of peripheral vision, and eventually, loss of vision at night. [esighteyewear.com]

  Cone-rod dystrophy typically manifests with loss of sharp visual acuity, which is not correctable with glasses, severe sensitivity to light (photophobia), central blind spots in the vision (scotomas), and progresses to poor vision in dimly lit environments [familyconnect.org]

  These signs are usually followed by blind spots in the central field of vision (scotomas), loss of color perception, and loss of peripheral vision. Most individuals with this condition are legally blind by mid adulthood. [rarediseases.info.nih.gov]

  These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. [medlineplus.gov]

• Visual Impairment

  Your child may be taught braille, screen-reading software to use the computer, and techniques for performing life skills and academic tasks from the teacher of students with visual impairments and orientation and mobility specialist. [familyconnect.org]

  impairment; defined as significant limitation of vision Treatments for cone-rod dystrophy Currently there are no treatments for cone-rod dystrophy. [lowvisionmd.org]

  The genetic mutations passed down from parents to their children cause the retina cones and rods to degenerate, resulting in decreased sharpness in vision, increased sensitivity to light, impaired color vision, blind spots in the center of the visual [esighteyewear.com]

• Visual Impairment

  Your child may be taught braille, screen-reading software to use the computer, and techniques for performing life skills and academic tasks from the teacher of students with visual impairments and orientation and mobility specialist. [familyconnect.org]

  impairment; defined as significant limitation of vision Treatments for cone-rod dystrophy Currently there are no treatments for cone-rod dystrophy. [lowvisionmd.org]

  The genetic mutations passed down from parents to their children cause the retina cones and rods to degenerate, resulting in decreased sharpness in vision, increased sensitivity to light, impaired color vision, blind spots in the center of the visual [esighteyewear.com]

• Macula

  The British researchers also noted a severe atrophy of the macula, with pigmentation and yellowing with a corresponding loss of fundus autofluorescence and marked retinal thinning and excavation at the macula on OCT by adulthood. [eurotimes.org]

  This condition affects a specific part of your retina called the macula. Your macula is what helps you have sharp central vision. A mutation in a gene called ABCA4 causes fatty buildup around your macula, affecting how well you see. [webmd.com]

  New technology in the form of the Optical Coherence Tomography (OCT) allows us to verify the loss of cone cells in the fovea, the center of the macula where only cones should be found. [biopticdrivingusa.com]

  Fundus changes may vary from mild pigment granularity to a distinct atrophic lesion in the central macula. [preventiongenetics.com]

  C : View of the right macula of a 10-year-old Jordanian male with autosomal recessive cone-rod dystrophy. There are atrophic changes, a beaten-bronze appearance, and abnormal vitreoretinal interface reflexes. [medscape.com]

• Nystagmus

  The mean age of onset of the retinopathy was 3.9 years and all patients had decreased best-corrected visual acuity from early childhood; 25 have night blindness; 10 have moderate photophobia; and 12 have nystagmus. [eurotimes.org]

  […] mutations in nine distinct genes, which is an excellent example of both genetic and allelic heterogeneity.[17] The majority of patients with early onset retinitis pigmentosa and Leber congenital amaurosis have had very poor vision since birth, with roving nystagmus [medscape.com]

  Some people develop involuntary eye movements (nystagmus). In CORD, vision gets worse over time. Some people lose more vision than others. This can happen even between family members with the same condition. [cera.org.au]

  […] of us (peripheral vision) Symptoms gradual loss of night vision gradual loss of peripheral vision sensitivity to bright light vision is best at dusk errors in color vision in both red-green and blue-yellow ranges In young children: Parents may notice Nystagmus [naturaleyecare.com]

  As the condition progresses, individuals may develop involuntary eye movements (nystagmus). [medlineplus.gov]

• Ataxia

  CRDs are most frequently nonsyndromic, however they may also be part of several syndromes, such as Alström syndrome, Bardet-Biedl syndrome and Spinocerebellar Ataxia Type 7. [orpha.net]

  And Retinitis Pigmentosa, Familial Infantile Bilateral Striatal Necrosis, Narp Syndrome MI – – ATXN2 Spinocerebellar Ataxia, Amyotrophic Lateral Sclerosis AD 91.78 9 of 10 ATXN7 Spinocerebellar Ataxia With Retinal Degeneration, Macular Degeneration [igenomix.es]

  […] include: Leber's Amaurosis, Retinitis Pigmentosa, Usher Syndrome, and syndromic cone dystrophy (an umbrella term that includes a range of eye diseases, such as Refsum disease, Bardet-Biedl syndrome, NARP syndrome, Batten disease, and spinocerebellar ataxia [naturaleyecare.com]

  Cone-Rod Dystrophies may sometimes present as part of a syndrome, such as Bardet-Biedl syndrome and Spinocerebellar Ataxia Type-7 (SCA7). [fightingblindness.ie]

Ayurvedic Treatment for Cone Rod Dystrophy There are many anecdotal claims that ayurvedic treatment can be helpful for CRD; however, they have yet to be scientifically proven. [esighteyewear.com]

[…] for cone-rod dystrophy Currently there are no treatments for cone-rod dystrophy. [lowvisionmd.org]

Treatment and support Currently, there may be a possible treatment for a very rare inherited retinal disease caused by a specific gene. But for most inherited retinal diseases, there is no potential medicine, surgery or ability to cure vision loss. [cera.org.au]

Are There Treatments for Cone-Rod Dystrophy? There is currently no cure or standard, proven treatment for cone-rod dystrophy. Some ophthalmologists believe that treatment with high doses of Vitamin A can slow the progression. [familyconnect.org]

Management and treatment Currently, there is no therapy that stops evolution of the disease or that restores vision. [orpha.net]

Prognosis Visual prognosis is variable, with early central vision loss and progressive visual dysfunction leading to legal blindness before 40 years of age in most cases. [orpha.net]

Etiology Nonsyndromic CRDs are genetically heterogeneous (28 genes have been identified). [orpha.net]

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Citation on PubMed [medlineplus.gov]

Summary Epidemiology The prevalence is estimated at 1 in 40,000 in Europe. [orpha.net]

It is of interest that gene supplementation of CRX by adeno-associated viral vector delivery prior to cone cell loss did not prevent cone photoreceptor degeneration in this mouse model. [mdpi.com]

The Foundation Fighting Blindness, of which we are a board member, raises funds that drive the research to find cures, treatments, and preventions for the spectrum of inherited retinal diseases that lead to blindness, including cone-rod dystrophy. [lowvisionmd.org]

Prevent Blindness: “Inherited Retinal Diseases.” Foundation Fighting Blindness: “Leber Congenital Amaurosis (LCA).” UCSF Health: “Leber Congenital Amaurosis (LCA).” [webmd.com]

It is suggested that people with CRD consult a vision specialist to learn about how to prevent further loss of vision and available tools to compensate for decreased vision. [esighteyewear.com]

This prevents the cemicals in the rod cells from being bleached by the light. [biopticdrivingusa.com]