Affected individuals may be symptomatic in infancy, but the majority present in childhood or early adult life. [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]

Alternative, a previously unknown gene or transcript could harbor pathogenic variation underlying this presentation. [frontiersin.org]

• Anemia

  She had a history of anemia, hypertension, and chronic renal disease secondary to congenital renal hypoplasia for which she underwent successful kidney transplant. The participant provided written, informed consent. [frontiersin.org]

• Hypertension

  She had a history of anemia, hypertension, and chronic renal disease secondary to congenital renal hypoplasia for which she underwent successful kidney transplant. The participant provided written, informed consent. [frontiersin.org]

• Macula

  (C) OCT of the macula (dashed line in A) showed irregularity of the IS/OS band. See Figure 5 for additional detail. [frontiersin.org]

  Anomaloscopy revealed matching ranges within normal limits, indicating the presence of long and middle wave cones of normal spectral sensitivity at the macula, while the absence of pseudoprotanomaly suggests that photopigment is present at normal optical [ncbi.nlm.nih.gov]

• Retinal Pigmentation

  Outer retinal length, defined as the distance between the inner segment (IS)/outer segment (OS) and retinal pigment epithelium (RPE) bands in OCT images, was measured using both commercial OCT and the custom AO-OCT at the same retinal locations where [frontiersin.org]

• Nystagmus

  There was no nystagmus. Electrophysiological testing provided evidence of retinal dysfunction predominantly confined to the cone system. [ncbi.nlm.nih.gov]

  The participant had no nystagmus and her anterior segment examination was only positive for age-appropriate nuclear sclerotic and cortical cataracts. [frontiersin.org]

• Confusion

  Vermillion, green, and blue lines indicate protan, deutan, and tritan confusion lines, respectively. (C) A magnified view of the area inside the dashed rectangle from (B). [frontiersin.org]

• Pendular Nystagmus

  Unlike our patients the two cases reported by Van Lith and Ehlich both had pendular nystagmus. The cone ERG findings in our patients were poorly concordant. [ncbi.nlm.nih.gov]

Management and treatment There is no effective treatment for the underlying retinal disorder. Patients should be provided with accurate visual aids: eyeglasses that can be tinted if photophobia is a prominent feature. [orpha.net]

Prognosis Although few patients with this disorder have been followed up long term, it appears that the prognosis is good as the disorder is usually non-progressive. [orpha.net]

Etiology The causative gene has not been identified. [orpha.net]

Summary Epidemiology The syndrome is very rare with less than 15 cases reported in the literature so far. Clinical description Individuals with this disorder have reduced visual acuity from a young age and usually have a mild degree of photophobia. [orpha.net]

R01EY025231, U01EY025477, R01EY028287, and P30EY026877, and by the Research to Prevent Blindness. The content was solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. [frontiersin.org]