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Choroidal Coloboma

Choroid Coloboma


Presentation

  • We present a case of choroidal coloboma where the retinal pigment epithelium was present, clinically and on imaging, but rest of the structures were poorly formed.[ncbi.nlm.nih.gov]
  • We present a case in which a recurrent retinal detachment associated with coloboma following vitreous surgery with SF6 was successfully repaired in outpatient surgery using perfluoroperhydrophenanthrene (Vitreon) and endolaser photocoagulation.[ncbi.nlm.nih.gov]
  • A right optic disk anomaly was present that was most compatible with an MGDA accompanied by an inferior choroidal coloboma.[ncbi.nlm.nih.gov]
  • The present case is the sixth case published of choroidal coloboma in association with the LBWC.[ncbi.nlm.nih.gov]
  • We present a case of a patient presenting with a macular hole in her only useful eye with an extramacular choroidal coloboma . A 56-year-old woman was referred with a 3-month history of central distortion and blurring of vision in her right eye.[journals.lww.com]
Amyloidosis
  • […] written by Pradeep Venkatesh Extended depth of focus adaptive optics spectral domain optical coherence tomography also categorized in Ophthalmology Retinal and choroidal circulation determined by optical coherence tomography angiography in patient with amyloidosis[octnews.org]
Cardiomegaly
  • […] skull anomaly Patient 24 8 days B/F Coloboma of iris, choroid, optic nerve; cataract; persistent primary hyperplastic vitreous; retinal dysplasia; cartilage Trisomy 13 (Patau), patent ductus arteriosus, low-set malformed ears, 6 digits, hypertelorism, cardiomegaly[ncbi.nlm.nih.gov]
Micropsia
  • Kumar A, Doyle E (2008) A 29-year-old man with a 3‑month history of blurred vision and micropsia in the left eye. Digit J Ophthalmol 14(17). 8. Naumann GOH (1997) Pathologie des Auges I. Springer, Berlin CrossRef Google Scholar 9.[link.springer.com]

Workup

Ventricular Hypertrophy
  • hypertrophy, cystic disease of kidneys, hydrocele, polydactylism, umbilical hernia Patient 6 2 days W/M Posterior embryotoxon cornea; incomplete cleavage of angle; coloboma of iris, choroid, opticus; tunica vasculosa lentis; microphthalmos Trisomy 13[ncbi.nlm.nih.gov]

Treatment

  • The CNV regressed 3 months after treatment and has not recurred as of 8 months after the last treatment. The patient's BCVA improved to 20/60.[ncbi.nlm.nih.gov]
  • The two eyes that did not experience postoperative visual improvement underwent intraoperative endolaser treatment 360 degrees around the optic nerve.[ncbi.nlm.nih.gov]
  • Treatment varies depending on the conditions or complications that present in each individual. In some instances, retinochoroidal colobomas do not cause any symptoms and treatment is not necessary.[rarediseases.info.nih.gov]
  • When last seen 11 months after treatment, BCVA was 20/80 N6 in LE with a regressed CNV [Figure 4] .[ijo.in]

Prognosis

  • Prognosis The prognosis for vision depended on the phenotype of the better eye  Microphthalmos with cyst has the worst prognosis  Coloboma with microcornea and microphthalmos a poor prognosis  Coloboma with only microcornea has an intermediate prognosis[slideshare.net]
  • Colobomas without microcornea (abnormally small cornea) or microphthalmia (abnormally small eyes) reportedly have the best visual prognosis, while complex colobomas associated with microphthalmia and retrobulbar cysts have the worst visual prognosis.[rarediseases.info.nih.gov]
  • In terms of visual prognosis, foveal involvement is an important predictor of poor visual acuity. Even large colobomas which do not involve the fovea may exhibit relatively preserved visual acuity.[webeye.ophth.uiowa.edu]
  • Given the guarded visual prognosis and frequent need for multiple surgeries, some may question the utility of operating on eyes with colobomatous RDs.[jovr.org]

Etiology

  • On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.[scielo.br]
  • RD) in eyes with choroidal coloboma has been reported to be from 8.1% to 42%. [2] , [3] , [4] , [5] , [6] If RD is secondary to retinal breaks outside the colobomatous area, it can be treated by scleral buckling surgery, however, when the coloboma is etiologically[e-tjo.org]
  • If supplemented with retinoic acid, however, these fishes do not develop coloboma with suggests vitamin A deficiency as an etiology. [6] [7] Ocular coloboma due to failed closure of the embryonic fissure occurs in 0.5 to 2.2 cases per 10,000 live births[eyewiki.aao.org]
  • The etiology of the failure of closure of the optic fissure is largely unknown. Genetics such as PAX2 and PAX6, and teratogenic agents may play a role in the causation [7].[medcraveonline.com]
  • Etiology In normal eye development, the neuroectoderm approaches the surface ectoderm and forms the optic vesicle. The optic vesicle invaginates to form an optic cup dorsally and proximally and the optic fissure ventrally and distally.[statpearls.com]

Epidemiology

  • Diagnosis: Retinochoroidal Coloboma EPIDEMIOLOGY Most cases are sporadic Frequency is unknown (mild cases escape detection) Cases associated with iris colobomas may be noticed at birth SIGNS Inferonasal "key hole" pupil may be seen if iris is involved[webeye.ophth.uiowa.edu]
  • Epidemiology Incidence is 5 per 1,00,000 newborns Prevalence is 1 in 10,000 60% are bilateral Molecular genetics  deletion in gene which maps to chromosome 7q26.  a mutation in the PAX6 g  # Warburg M J Med Genet. 1993 Aug;30(8):664-9 4.[slideshare.net]
  • To give a better estimate of the prevalence of chorioretinal coloboma, a large epidemiology study needs to be carried out using similar methodology.[journalofoptometry.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology In the normal eye, optic fissure closes 33 to 40 days after conception.[slideshare.net]
  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.com]

Prevention

  • If peripapillary endophotocoagulation is performed, especially through the papillomacular bundle, nerve fiber damage may occur and prevent visual recovery, despite retinal reattachment.[ncbi.nlm.nih.gov]
  • […] around the margin of the coloboma to isolate the anomalous retina containing the breaks.2,4 Despite the use of internal tamponading agents such as gas, persistent or recurrent subretinal fluid in the area of coloboma may occur, lifting the retina and preventing[healio.com]
  • Loss of Bcl6 function leads to colobomas along with up-regulation of p53, a previously known Bcl6 target, and an increase in the number of apoptotic cells in the retina, demonstrating that Bcl6 plays a critical role in preventing apoptosis in the retina[repositories.lib.utexas.edu]
  • Preventive measures such as early detection of the retinal break, prophylactic laser photocoagulation along the coloboma margin, confer a significant benefit in reducing this risk of retinal detachment.[panafrican-med-journal.com]

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