Together, the known adRP genes account for retinal disease in approximately half of the families in this survey, mostly Americans of European origin. Among the adRP genes, IMPDH1, PRPF8, PRPF31, RDS, RHO, and RP1 each accounts for more than 2% of the total; CRX, PRPF3, and RPGR each accounts for roughly 1%. Disease-causing mutations were not found in CA4, FSCN2, NRL, or RP9. Because some mutations are frequent and some regions are more likely to harbor mutations than others, more than two thirds of the detected mutations can be found by screening less than 10% of the total gene sequences. Among the remaining families, mutations may lie in regions of known genes that were not tested, mutations may not be detectable by PCR-based sequencing, or other loci may be involved.

Mutations in IMPDH1 account for approximately 2% of families with adRP, and de novo IMPDH1 mutations are also rare causes of isolated LCA. This analysis of the novel IMPDH1 mutants substantiates previous reports that IMPDH1 mutations do not alter enzyme activity and demonstrates that these mutants alter the recently identified single-stranded nucleic acid binding property of IMPDH. Studies are needed to further characterize the functional significance of IMPDH1 nucleic acid binding and its potential relationship to retinal degeneration.

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BackgroundA complex relationship between Graves’ ophthalmopathy (GO) and dry eye syndrome exists. New research brings more insight into the association between these two diseases.MethodsA review of the literature was conducted using the query terms “Graves’ Ophthalmopathy”, “Thyroid Eye Disease”, and “Dry Eye” in MedLine (PubMed) and Scopus. A total of 55 papers were reviewed. Case reports were excluded.ConclusionThis review paper shows the close relationship between dry eye syndrome and GO. The underlying mechanisms behind their association suggest mechanical impairment of orbital muscles and immune-mediated lacrimal gland dysfunction as the causes of dry eye in GO patients. However, there are a variety of treatment options available for patients with GO with signs of dry eye, which help combat this issue.

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Prosthetic replacement of the ocular surface ecosystem is a treatment developed by the Boston Foundation for Sight that uses a Food and Drug Administration-approved prosthetic device for the treatment of severe ocular surface disease to improve vision and discomfort in addition to supporting the ocular surface. Facial nerve paralysis has multiple causes including trauma, surgery, tumor, stroke, and congenital lagophthalmos. Subsequent lagophthalmos leading to exposure keratitis has been treated with copious lubrication, tarsorrhapy, eyelid weights, chemodenervation to yield protective ptosis, and palpebral spring insertion. Each of these treatments, however, has limitations and potential complications. The prosthetic replacement of the ocular surface ecosystem device provides a liquid bandage to protect the cornea from eyelid interaction and dessication in addition to improving vision. This report describes 4 patients with exposure keratitis who were successfully treated with prosthetic replacement of the ocular surface ecosystem devices at 2 clinical sites.

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