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high_hyperopia [2026/07/26 15:30] – Scott Larsonhigh_hyperopia [2026/07/27 18:07] (current) – Scott Larson
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 - **≥+5.00 D** is the most widely used cutoff for "high hyperopia" in pediatric amblyopia and strabismus research.[2][3] - **≥+5.00 D** is the most widely used cutoff for "high hyperopia" in pediatric amblyopia and strabismus research.[2][3]
 - **≥+4.00 D** is used in some epidemiologic studies as the threshold for "moderate to high hyperopia".[4][5] - **≥+4.00 D** is used in some epidemiologic studies as the threshold for "moderate to high hyperopia".[4][5]
-- **≥+7.00 D** is often used to define the extreme end of the spectrum, particularly in the context of structural conditions such as **nanophthalmos** and **posterior microphthalmos**.[6][7]+- **≥+7.00 D** is often used to define the extreme end of the spectrum, particularly in the context of structural conditions such as **nanophthalmos** and **posterior [[microphthalmos|microphthalmos]]**.[6][7]
  
  
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 ===== Structural Ocular Conditions ===== ===== Structural Ocular Conditions =====
  
-**Nanophthalmos** — Extreme hyperopia (+8 to +25 D) due to a very short axial length with normal cornea and lens size. Associated with angle-closure glaucoma, thickened sclera, and uveal effusion.[5][8] +  * [[nanophthalmia|Nanophthalmos]] — Extreme hyperopia (+8 to +25 D) due to a very short axial length with normal cornea and lens size. Associated with angle-closure glaucoma, thickened sclera, and uveal effusion.[5][8] 
- +  * Posterior [[microphthalmos|microphthalmos]] — Short axial length with normal anterior segment dimensions. Associated with macular folds (papillomacular folds) and high hyperopia, but lower rates of angle-closure glaucoma compared to nanophthalmos.[5]
-**Posterior microphthalmos** — Short axial length with normal anterior segment dimensions. Associated with macular folds (papillomacular folds) and high hyperopia, but lower rates of angle-closure glaucoma compared to nanophthalmos.[5]+
  
 ===== Genetic Syndromes Featuring High Hyperopia ===== ===== Genetic Syndromes Featuring High Hyperopia =====
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 Several genetic conditions include high hyperopia as a characteristic feature:[9][10][11] Several genetic conditions include high hyperopia as a characteristic feature:[9][10][11]
  
-  * [Down syndrome](https://www.openevidence.com/rare-disease/down-syndrome) (trisomy 21)* +  * [Down syndrome](https://www.openevidence.com/rare-disease/down-syndrome) (trisomy 21) 
-  * [Fragile X syndrome](https://www.openevidence.com/rare-disease/fragile-x-syndrome)* +  * [Fragile X syndrome](https://www.openevidence.com/rare-disease/fragile-x-syndrome) 
-  * [22q11.2 deletion syndrome](https://www.openevidence.com/rare-disease/22q112-deletion-syndrome) (DiGeorge/velocardiofacial syndrome)* +  * [[digeorge_syndrome|22q11.2 deletion syndrome]] 
-  * [Leber congenital amaurosis](https://www.openevidence.com/rare-disease/leber-congenital-amaurosis)* +  * [[leber_congenital_amaurosis|Leber congenital amaurosis]] 
-  * [Achromatopsia](https://www.openevidence.com/rare-disease/achromatopsia)* +  * [[achromatopsia|Achromatopsia]] 
-  * Aniridia* +  * Aniridia 
-  * X-linked juvenile retinoschisis* +  * [[linked_retinoschisis|X-linked juvenile retinoschisis]] 
-  * Senior-Loken syndrome (renal-retinal dystrophy)*[12] +  * Senior-Loken syndrome (renal-retinal dystrophy)[12] 
-  * Gorlin-Chaudhry-Moss syndrome* +  * Gorlin-Chaudhry-Moss syndrome 
-  * Bardet-Biedl syndrome*+  * [[bardet-biedl|Bardet-Biedl syndrome]]
  
 ===== Genetic Causes of Isolated High Hyperopia ===== ===== Genetic Causes of Isolated High Hyperopia =====
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   - Sprunger DT, Lambert SR, Hercinovic A, et al. Esotropia and Exotropia Preferred Practice Pattern. Ophthalmology. 2023. [[https://pubmed.ncbi.nlm.nih.gov/37839895/]]   - Sprunger DT, Lambert SR, Hercinovic A, et al. Esotropia and Exotropia Preferred Practice Pattern. Ophthalmology. 2023. [[https://pubmed.ncbi.nlm.nih.gov/37839895/]]
   - Zhou S, Pardeshi AA, Burkemper B, et al. Refractive Error and Anterior Chamber Depth as Risk Factors in Primary Angle Closure Disease: The Chinese American Eye Study. J Glaucoma. 2023. [[https://pubmed.ncbi.nlm.nih.gov/36728083/]]   - Zhou S, Pardeshi AA, Burkemper B, et al. Refractive Error and Anterior Chamber Depth as Risk Factors in Primary Angle Closure Disease: The Chinese American Eye Study. J Glaucoma. 2023. [[https://pubmed.ncbi.nlm.nih.gov/36728083/]]
-  - Relhan N, Jalali S, Pehre N, et al. High-Hyperopia Database, Part I: Clinical Characterisation Including Morphometric (Biometric) Differentiation of Posterior Microphthalmos From Nanophthalmos. Eye (Lond). 2016. [[https://pubmed.ncbi.nlm.nih.gov/26742865/]]+  - Relhan N, Jalali S, Pehre N, et al. High-Hyperopia Database, Part I: Clinical Characterisation Including Morphometric (Biometric) Differentiation of Posterior Microphthalmos From Nanophthalmos. Eye (Lond). 2016. [[https://pubmed.ncbi.nlm.nih.gov/26493039/]]
   - Jonas JB, Aung T, Bourne RR, et al. Glaucoma. Lancet. 2017. [[https://pubmed.ncbi.nlm.nih.gov/28577860/]]   - Jonas JB, Aung T, Bourne RR, et al. Glaucoma. Lancet. 2017. [[https://pubmed.ncbi.nlm.nih.gov/28577860/]]
   - Jacobs DS, Afshari NA, Bishop RJ, et al. Refractive Errors Preferred Practice Pattern. Ophthalmology. 2023. [[https://pubmed.ncbi.nlm.nih.gov/37839893/]]   - Jacobs DS, Afshari NA, Bishop RJ, et al. Refractive Errors Preferred Practice Pattern. Ophthalmology. 2023. [[https://pubmed.ncbi.nlm.nih.gov/37839893/]]
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   - Xiao X, Sun W, Ouyang J, et al. Novel Truncation Mutations in MYRF Cause Autosomal Dominant High Hyperopia Mapped to 11p12-Q13.3. Hum Genet. 2019. [[https://pubmed.ncbi.nlm.nih.gov/31049660/]]   - Xiao X, Sun W, Ouyang J, et al. Novel Truncation Mutations in MYRF Cause Autosomal Dominant High Hyperopia Mapped to 11p12-Q13.3. Hum Genet. 2019. [[https://pubmed.ncbi.nlm.nih.gov/31049660/]]
  
-### References 
  
-1. Associations Between Hyperopia and Other Vision and Refractive Error Characteristics. Kulp MT, Ying GS, Huang J, et al. Optometry and Vision Science : Official Publication of the American Academy of Optometry. 2014;91(4):383-9. doi:10.1097/OPX.0000000000000223. 
-2. Isoametropic Amblyopia Due to High Hyperopia in Children. Klimek DL, Cruz OA, Scott WE, Davitt BV. Journal of AAPOS : The Official Publication of the American Association for Pediatric Ophthalmology and Strabismus. 2004;8(4):310-3. doi:10.1016/j.jaapos.2004.05.007. 
-3. Esotropia and Exotropia Preferred Practice Pattern®. Sprunger DT, Lambert SR, Hercinovic A, et al. Ophthalmology. 2023;130(3):P179-P221. doi:10.1016/j.ophtha.2022.11.002. 
-4. Refractive Error and Anterior Chamber Depth as Risk Factors in Primary Angle Closure Disease: The Chinese American Eye Study. Zhou S, Pardeshi AA, Burkemper B, et al. Journal of Glaucoma. 2023;32(4):257-264. doi:10.1097/IJG.0000000000002154. 
-5. High-Hyperopia Database, Part I: Clinical Characterisation Including Morphometric (Biometric) Differentiation of Posterior Microphthalmos From Nanophthalmos. Relhan N, Jalali S, Pehre N, et al. Eye (London, England). 2016;30(1):120-6. doi:10.1038/eye.2015.206. 
-6. Glaucoma. Jonas JB, Aung T, Bourne RR, et al. Lancet (London, England). 2017;390(10108):2183-2193. doi:10.1016/S0140-6736(17)31469-1. 
-7. Refractive Errors Preferred Practice Pattern®. Jacobs DS, Afshari NA, Bishop RJ, et al. Ophthalmology. 2023;130(3):P1-P60. doi:10.1016/j.ophtha.2022.10.031. 
-8. Complex Trait Genetics of Refractive Error. Young TL, Metlapally R, Shay AE. Archives of Ophthalmology (Chicago, Ill. : 1960). 2007;125(1):38-48. doi:10.1001/archopht.125.1.38. 
-9. Farsightedness. National Library of Medicine (MedlinePlus). 
-10. Eclectic Ocular Comorbidities and Systemic Diseases with Eye Involvement: A Review. Pinazo-Durán MD, Zanón-Moreno V, García-Medina JJ, et al. BioMed Research International. 2016;2016:6215745. doi:10.1155/2016/6215745. 
-11. Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study. von Scheibler ENMM, van der Valk Bouman ES, Nuijts MA, et al. American Journal of Medical Genetics. Part A. 2022;188(2):569-578. doi:10.1002/ajmg.a.62556. 
-12. Genetic analysis Assists Diagnosis of Clinical Systemic Disease in Children With Excessive Hyperopia. Wen S, Min X, Zhu Y, Zhou X. BMC Pediatrics. 2022;22(1):305. doi:10.1186/s12887-021-02992-7. 
-13. Novel Truncation Mutations in MYRF Cause Autosomal Dominant High Hyperopia Mapped to 11p12-Q13.3. Xiao X, Sun W, Ouyang J, et al. Human Genetics. 2019;138(10):1077-1090. doi:10.1007/s00439-019-02039-z.