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Intellectual developmental disorder and retinitis pigmentosa; IDDRP(IDDRP)

MedGen UID:
1648358
Concept ID:
C4748658
Disease or Syndrome
Synonym: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
 
Gene (location): SCAPER (15q24.3)
 
Monarch Initiative: MONDO:0032594
OMIM®: 618195

Definition

Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients (Tatour et al., 2017). [from OMIM]

Clinical features

From HPO
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Nyctalopia
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Peripapillary atrophy
MedGen UID:
473480
Concept ID:
C1719838
Pathologic Function
Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Abnormal flash visual evoked potentials
MedGen UID:
870329
Concept ID:
C4024772
Finding
Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.

Professional guidelines

PubMed

Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2020 Jan;97(1):209-221. Epub 2019 Sep 16 doi: 10.1111/cge.13639. PMID: 31497877
Warburg M, Riise R
J Med Genet 2000 Dec;37(12):E46. doi: 10.1136/jmg.37.12.e46. PMID: 11106364Free PMC Article
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Recent clinical studies

Etiology

Gantz MG, Driscoll DJ, Miller JL, Duis JB, Butler MG, Gourash L, Forster J, Scheimann AO
Obesity (Silver Spring) 2022 May;30(5):973-981. Epub 2022 Apr 13 doi: 10.1002/oby.23385. PMID: 35416416
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Am J Med Genet C Semin Med Genet 2020 Sep;184(3):538-570. Epub 2020 Sep 11 doi: 10.1002/ajmg.c.31834. PMID: 32918368
Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC
Ann Clin Transl Neurol 2020 Jun;7(6):1013-1028. Epub 2020 Jun 9 doi: 10.1002/acn3.51074. PMID: 32519519Free PMC Article
Stryjecki C, Alyass A, Meyre D
Obes Rev 2018 Jan;19(1):62-80. Epub 2017 Oct 10 doi: 10.1111/obr.12604. PMID: 29024387
Powers JM
J Mol Neurosci 2001 Apr-Jun;16(2-3):285-7; discussion 317-21. doi: 10.1385/JMN:16:2-3:285. PMID: 11478383

Diagnosis

Yang XR, Benson MD, MacDonald IM, Innes AM
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):538-570. Epub 2020 Sep 11 doi: 10.1002/ajmg.c.31834. PMID: 32918368
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L
Clin Genet 2020 Jan;97(1):209-221. Epub 2019 Sep 16 doi: 10.1111/cge.13639. PMID: 31497877
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Therapy

Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK
Eur J Hum Genet 2019 Jul;27(7):1081-1089. Epub 2019 Feb 18 doi: 10.1038/s41431-019-0366-9. PMID: 30778173Free PMC Article
Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS
Eur J Hum Genet 2019 Jun;27(6):928-940. Epub 2019 Feb 5 doi: 10.1038/s41431-019-0347-z. PMID: 30723319Free PMC Article
Cartier N, Cordelier P
Hum Gene Ther 2016 Feb;27(2):96-7. doi: 10.1089/hum.2016.29020.nca. PMID: 26886830
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892
Farooqi IS
Best Pract Res Clin Endocrinol Metab 2005 Sep;19(3):359-74. doi: 10.1016/j.beem.2005.04.004. PMID: 16150380

Prognosis

Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N
Am J Med Genet A 2022 Oct;188(10):3032-3040. Epub 2022 Jul 25 doi: 10.1002/ajmg.a.62911. PMID: 35876338Free PMC Article
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. PMID: 30578499
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N
Am J Med Genet A 2022 Oct;188(10):3032-3040. Epub 2022 Jul 25 doi: 10.1002/ajmg.a.62911. PMID: 35876338Free PMC Article
Yang XR, Benson MD, MacDonald IM, Innes AM
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):538-570. Epub 2020 Sep 11 doi: 10.1002/ajmg.c.31834. PMID: 32918368
Fieggen K, Milligan C, Henderson B, Esterhuizen AI
S Afr Med J 2016 May 25;106(6 Suppl 1):S72-4. doi: 10.7196/SAMJ.2016.v106i6.11000. PMID: 27245532
Powers JM
J Mol Neurosci 2001 Apr-Jun;16(2-3):285-7; discussion 317-21. doi: 10.1385/JMN:16:2-3:285. PMID: 11478383
Ehara H, Tamaoki Y, Eda I
Pediatr Neurol 1999 Oct;21(4):757-62. doi: 10.1016/s0887-8994(99)00078-8. PMID: 10580893

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