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Marcus Gunn pupil

MedGen UID:
488917
Concept ID:
C0549122
Disease or Syndrome
Synonyms: RAPD - Relative afferent pupil defect; RAPD - Relative afferent pupillary defect; Relative afferent pupil defect; Relative afferent pupillary defect
SNOMED CT: RAPD - Relative afferent pupillary defect (232122003); Relative afferent pupillary defect (232122003); Relative afferent pupil defect (247015002); RAPD - Relative afferent pupil defect (247015002)
 
HPO: HP:0200057

Definition

An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. [from HPO]

Term Hierarchy

Conditions with this feature

Fibrous dysplasia of jaw
MedGen UID:
40219
Concept ID:
C0008029
Disease or Syndrome
Cherubism is a childhood-onset, autoinflammatory bone disease characterized by bilateral and symmetric proliferative fibroosseous lesions limited to the mandible and maxilla. The enlargement is usually symmetric in nature. The phenotype ranges from no clinical manifestations to severe mandibular and maxillary overgrowth with respiratory, vision, speech, and swallowing problems. In most affected persons, teeth are displaced, unerupted, unformed, or absent, or may appear to be floating in cystlike spaces; malocclusion, premature exfoliation of deciduous teeth, and root resorption have also been reported. The course and duration of the active process of bone destruction varies between affected individuals; the onset is usually in early childhood, and typically new lesions can occur until puberty. Regression of the lesions occurs as they become filled with bone and remodel during the second and third decade of life. By age 30 years, the facial abnormalities associated with cherubism are not usually recognizable and residual deformity of the jaws is rare. Typically, cherubism is an isolated benign condition; the affected person has normal intellectual skills and is without other physical anomalies.

Professional guidelines

PubMed

Romano V, Madrid-Costa D, Alfonso JF, Alio J, Allan B, Angunawela R, Auffarth G, Carones F, Khoramnia R, Moore J, Nanavaty MA, Savini G, Pagano L, Romano MR, Virgili G, Fernández-Vega-Cueto L
Am J Ophthalmol 2023 Sep;253:169-180. Epub 2023 May 24 doi: 10.1016/j.ajo.2023.05.002. PMID: 37236521
Dolman PJ
J Endocrinol Invest 2021 Mar;44(3):421-429. Epub 2020 Jul 29 doi: 10.1007/s40618-020-01361-y. PMID: 32729049
Balami JS, Chen RL, Buchan AM
QJM 2013 Jul;106(7):607-15. Epub 2013 Mar 12 doi: 10.1093/qjmed/hct057. PMID: 23483140

Recent clinical studies

Etiology

Babalola YO, Ibiyemi AA, Oluseye MO
Niger Postgrad Med J 2022 Jul-Sep;29(3):278-280. doi: 10.4103/npmj.npmj_76_22. PMID: 35900467
Granadier RJ
Dis Mon 2000 Aug;46(8):508-32. doi: 10.1016/s0011-5029(00)90013-0. PMID: 10969715
Clayman HM
J Am Intraocul Implant Soc 1981 Jan;7(1):24-7. doi: 10.1016/s0146-2776(81)80092-4. PMID: 7228797
Fischer LG
J Am Optom Assoc 1977 Dec;48(12):1511-5. PMID: 599246

Diagnosis

Babalola YO, Ibiyemi AA, Oluseye MO
Niger Postgrad Med J 2022 Jul-Sep;29(3):278-280. doi: 10.4103/npmj.npmj_76_22. PMID: 35900467
Granadier RJ
Dis Mon 2000 Aug;46(8):508-32. doi: 10.1016/s0011-5029(00)90013-0. PMID: 10969715
Keltner JL
Pediatr Ann 1983 Aug;12(8):586, 590-8, 600-2. doi: 10.3928/0090-4481-19830801-05. PMID: 6622078
Keltner JL
Pediatr Ann 1977 Feb;6(2):78-9, 82-3, 87 passim. doi: 10.3928/0090-4481-19770201-06. PMID: 834483
Fischer LG
J Am Optom Assoc 1977 Dec;48(12):1511-5. PMID: 599246

Therapy

Babalola YO, Ibiyemi AA, Oluseye MO
Niger Postgrad Med J 2022 Jul-Sep;29(3):278-280. doi: 10.4103/npmj.npmj_76_22. PMID: 35900467
Gire J, Hoffart L, Zanin E, Girard N, Ridings B, Conrath J
Orbit 2010 Feb;29(1):60-2. doi: 10.3109/01676830903294677. PMID: 20302415

Prognosis

Babalola YO, Ibiyemi AA, Oluseye MO
Niger Postgrad Med J 2022 Jul-Sep;29(3):278-280. doi: 10.4103/npmj.npmj_76_22. PMID: 35900467
Granadier RJ
Dis Mon 2000 Aug;46(8):508-32. doi: 10.1016/s0011-5029(00)90013-0. PMID: 10969715
Pickett JE, Terry SA, O'Connor PS, O'Hara M
Ophthalmology 1985 Jul;92(7):891-6. doi: 10.1016/s0161-6420(85)33938-6. PMID: 4022574
DeRosa L
J Am Optom Assoc 1985 Feb;56(2):120-2. PMID: 3980903

Clinical prediction guides

Giroud M, Semama D, Pradeaux L, Gouyon JB, Dumas R, Nivelon JL
Childs Nerv Syst 1990 Jun;6(4):236-8. doi: 10.1007/BF01850982. PMID: 2383880

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