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| nanophthalmia [2026/07/27 11:06] – [Treatment] Scott Larson | nanophthalmia [2026/07/27 12:08] (current) – Scott Larson | ||
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| ===== Definition ===== | ===== Definition ===== | ||
| - | Nanophthalmos is a rare developmental ocular disorder characterised by a small but structurally normal eye with a significantly | + | * Small but largely |
| + | * Characterized by: | ||
| + | * Significantly | ||
| + | * [[high_hyperopia|High | ||
| + | * High lens-to-eye volume ratio | ||
| + | * Shallow | ||
| + | * Thickened | ||
| + | * Small cornea. | ||
| + | * Distinct | ||
| ===== Potential Causes / Genetics ===== | ===== Potential Causes / Genetics ===== | ||
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| * Post-surgical complications — intraocular surgery carries an extremely high complication rate, including malignant glaucoma, suprachoroidal haemorrhage, | * Post-surgical complications — intraocular surgery carries an extremely high complication rate, including malignant glaucoma, suprachoroidal haemorrhage, | ||
| - | ===== Treatment | + | ===== Surgical Consideration |
| - | Treatment of nanophthalmos is challenging due to the high rate of surgical complications. | + | Treatment |
| == Medical Management == | == Medical Management == | ||
| - | |||
| * Glaucoma medications — effective for IOP control; however, miotics should be used with caution as they may worsen pupillary block. | * Glaucoma medications — effective for IOP control; however, miotics should be used with caution as they may worsen pupillary block. | ||
| * Cycloplegic agents — may be used for refractive correction in children. | * Cycloplegic agents — may be used for refractive correction in children. | ||
| == Laser Therapy == | == Laser Therapy == | ||
| - | |||
| * Laser peripheral iridotomy (LPI) — first-line for angle-closure; | * Laser peripheral iridotomy (LPI) — first-line for angle-closure; | ||
| * Laser gonioplasty — successful in ~92% of eyes. | * Laser gonioplasty — successful in ~92% of eyes. | ||
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| == Surgical Management == | == Surgical Management == | ||
| - | |||
| * Scleral decompression procedures (sclerectomy, | * Scleral decompression procedures (sclerectomy, | ||
| * Cataract surgery — phacoemulsification has significantly fewer complications than manual small-incision cataract surgery (SICS). Lens extraction can also deepen the anterior chamber and help manage angle closure. | * Cataract surgery — phacoemulsification has significantly fewer complications than manual small-incision cataract surgery (SICS). Lens extraction can also deepen the anterior chamber and help manage angle closure. | ||
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| * Vortex vein decompression — less frequently reported; used for uveal effusion. | * Vortex vein decompression — less frequently reported; used for uveal effusion. | ||
| * Adjunctive treatments — mitomycin C and intravitreal anti-VEGF injections have been used as adjuncts to scleral decompression surgery. | * Adjunctive treatments — mitomycin C and intravitreal anti-VEGF injections have been used as adjuncts to scleral decompression surgery. | ||
| - | |||
| == Key Surgical Principles == | == Key Surgical Principles == | ||
| - | + | | |
| - | | + | * Prophylactic sclerostomy should be considered when intraocular surgery is planned. |
| - | * Prophylactic sclerostomy should be considered when intraocular surgery is planned.* | + | * Genetic counselling is recommended, |
| - | * Genetic counselling is recommended, | + | |
| =====References===== | =====References===== | ||
| - | 1. Comprehensive Genetic Landscapes and Clinical Heterogeneity in Nanophthalmos: | + | - [[https:// |
| - | 2. Clinical Features of Patients With Mutations in Genes for Nanophthalmos. Li X, Xiao H, Su Y, et al. The British Journal of Ophthalmology. 2024; | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 3. Clinical Spectrum and Treatment Outcomes of Patients With Nanophthalmos. Rajendrababu S, Shroff S, Uduman MS, Babu N. Eye (London, England). 2021; | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 4. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Siggs OM, Awadalla MS, Souzeau E, et al. Clinical Genetics. 2020; | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 5. Novel TMEM98, MFRP, PRSS56 Variants in a Large United States High Hyperopia and Nanophthalmos Cohort. Prasov L, Guan B, Ullah E, et al. Scientific Reports. 2020; | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 6. The Majority of Autosomal Recessive Nanophthalmos and Posterior Microphthalmia Can Be Attributed to Biallelic Sequence and Structural Variants in MFRP and PRSS56. Almoallem B, Arno G, De Zaeytijd J, et al. Scientific Reports. 2020; | + | - [[https://www.nature.com/ |
| - | 7. Sclerectomies in Nanophthalmos and Idiopathic Uveal Effusion Syndrome: A Systematic Review. Braga de Sousa L, Barbosa-Breda J. Graefe' | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 8. Effect of Combined Surgery in Patients With Complex Nanophthalmos. Wei Y, Su Y, Fang L, et al. Journal of Clinical Medicine. 2022; | + | - [[https://www.mdpi.com/ |
| - | 9. Nanophthalmos: | + | - [[https://pubmed.ncbi.nlm.nih.gov/ |
| - | 10. Genotype-Phenotype Spectrum in Isolated and Syndromic Nanophthalmos. Lang E, Koller S, Atac D, et al. Acta Ophthalmologica. 2021; | + | - [[https:// |