American Family Vision Clinic Logo
Authors
Xu, Yan; Guan, Liping; Xiao, Xueshan; Zhang, Jianguo; Li, Shiqiang; Jiang, Hui; Jia, Xiaoyun; Yin, Ye; Guo, Xiangming; Yang, Zhikuan; Zhang, Qingjiong

Identification of MFRP Mutations in Chinese Families with High Hyperopia

publication date
Category
see more

Abstract/Introduction

Purpose 

Mutations in MFRP have been reported to cause autosomal recessive posterior microphthalmia, nanophthalmos, and an ophthalmic syndrome characterized by posterior microphthalmia, high hyperopia, retinitis pigmentosa, foveoschisis, and optic disc drusen. High hyperopia is a consistent sign of this syndrome. The purpose of this study was to detect MFRP mutations in 46 unrelated Chinese probands with high hyperopia.

 

Methods 

Clinical data and genomic DNA were collected from 46 Chinese probands diagnosed as having high hyperopia. Genomic DNA from 42 probands was initially analyzed by whole exome sequencing. MFRP variants were confirmed by Sanger sequencing. The coding sequence of MFRP for four additional probands was also analyzed by Sanger sequencing. Candidate MFRP variants were further validated in available family members and 192 normal individuals.


Conclusion/Results

Results 

Potential pathogenic compound heterozygous mutations, including c.287_291del (p.P96Lfs*6), c.1615C>T (p.R539C), c.664C>A (p.P222T), c.1150dup (p.H384Pfs*8), and c.1549C>T (p.R517W), were detected in three of the 46 probands included in this study. The clinical data revealed that all patients in this study had high hyperopia of +13.50D or higher and an eye axial length of 16.78 mm or less. Electroretinography showed normal responses in a patient with missense mutations and reduced rod responses in another patient with missense and truncation mutations in whom optical coherence tomography showed developmental cystoid macular degeneration in both eyes.

 

Conclusions 

The current study expands our knowledge of the mutation spectrum of MFRP and its associated phenotypes. To our knowledge, this is the first report of MFRP mutations in a Chinese cohort.


Testimonials


Such a nice optician. My grandson is only 4 and needs glasses. We were so sad, but he explained the issues, and we will follow up as he suggested.


Anna P.

I had such a good experience with the clinic. Very friendly staff and doctor, did not have to wait for long to be called, and was treated respectfully. Thanks, American Family.


June S.

Dr. Zurcher has gone above and beyond what any other eye doctor has ever done to figure out what is going on with my eyes. Very happy with American Family Vision.


Christine R.

Family Vision Clinic changed our lives! My daughter was frequently car sick, and she was getting headaches every day, often painful enough that they brought her to tears. We saw a string of doctors and therapists, but we made no progress. Finally, we found Dr. Levi Zurcher and his eye therapist Rain. After ten weeks of eye therapy my daughter no longer gets headaches, and she no longer gets car sick. Daily tears are a thing of the past. I really can’t say enough about this clinic. It was fascinating to watch Dr. Zurcher work. For the first time, someone who knew what they were doing was intently studying my daughter, really trying to figure out all of her eye issues, and his therapist Rain is one of the most patient and lovely people that I’ve ever had the good fortune to meet. We’re finished with eye therapy—yay!—and I have switched to American Family Vision Clinic for all of my family’s other eye health needs.


Lars Wulff

Very professional, yet kind and helpful. They do what they can to make the appointment comfortable. I was running a bit late, I made sure ti call. They were able to switch me with a patient who was already there, they treated me with respect, and helped my son have confidence by getting him the eye care he needed that day. Thank you so much! Would recommend to anyone. It's a blessing that they care enough to work with people who have all different types of insurance from work to state coverage.


Justin E.

The staff is friendly. The Doc is very knowledgeable. The office is family friendly and everyone is so patient with the little ones.


Amy Fagerness
1 2 3

Blog

DSC_2354

Beyond LASIK: Discovering New Vision Correction Techniques

According to the American Society of Cataract and Refractive Surgery (ASCRS), there were approximately 1.8 million LASIK procedures performed in […]

Read More
pexels-eternal-happiness-3327126

[mbv name="token-practice-city"] eye doctor explains how to get rid of under eye bags

As a local optometry clinic, we often get asked how to get rid of under eye bags. Many people have […]

Read More
medicine-health-care-eyesight-concept-unrecognizable-female-shows-her-inflated-red-eye-with-blood-capillary

Olympia Optometrist's Guide to Understanding Pink Eye: Symptoms, Causes, and Treatment

Bacterial conjunctivitis is a prevalent condition globally. In the US, it affects 135 out of every 10,000 people each year, […]

Read More
see all blogs

Contact Us To Amplify Your EyeCare

Working Hours

Monday - Thursday
8:00 am - 5:15pm
friday-sunday
Closed
Location
400 Yauger Way SW. Bldg 1, Ste A Olympia, WA 98502
Website Accessibility Policy
Safety protocols page
phone-handsetarrow-uparrow-right linkedin facebook pinterest youtube rss twitter instagram facebook-blank rss-blank linkedin-blank pinterest youtube twitter instagram